Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.27374653_27374654delinsAG , CM000665.2:g.27374653_27374654delinsAG	GRCh38
NC_000003.11:g.27416144_27416145delinsAG , CM000665.1:g.27416144_27416145delinsAG	GRCh37
NC_000003.10:g.27391148_27391149delinsAG	NCBI36
NG_032673.1:g.114767_114768delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454389.6:c.2110_2111delinsCT MANE Select	ENSP00000390394.1:n.2110_2111delinsCT
ENST00000295736.9:c.2110_2111delinsCT	ENSP00000295736.5:n.2110_2111delinsCT
ENST00000419036.5:c.4516_4517delinsCT	ENSP00000411031.1:n.4516_4517delinsCT
ENST00000425128.6:c.2110_2111delinsCT	ENSP00000401949.3:n.2110_2111delinsCT
ENST00000428386.5:c.2110_2111delinsCT	ENSP00000416368.1:n.2110_2111delinsCT
NM_001258379.1:c.2110_2111delinsCT	NP_001245308.1:n.2110_2111delinsCT
NM_001258380.1:c.2110_2111delinsCT	NP_001245309.1:n.2110_2111delinsCT
NM_003615.4:c.2110_2111delinsCT	NP_003606.3:n.2110_2111delinsCT
XM_005265598.3:c.2110_2111delinsCT	XP_005265655.1:n.2110_2111delinsCT
XM_005265600.3:c.2110_2111delinsCT	XP_005265657.1:n.2110_2111delinsCT
XM_005265601.1:c.2110_2111delinsCT	XP_005265658.1:n.2110_2111delinsCT
XM_006713421.1:c.2110_2111delinsCT	XP_006713484.1:n.2110_2111delinsCT
XM_011534255.1:c.2110_2111delinsCT	XP_011532557.1:n.2110_2111delinsCT
XM_011534256.1:c.2110_2111delinsCT	XP_011532558.1:n.2110_2111delinsCT
XM_011534257.1:c.2110_2111delinsCT	XP_011532559.1:n.2110_2111delinsCT
XM_011534258.1:c.2110_2111delinsCT	XP_011532560.1:n.2110_2111delinsCT
XM_011534259.1:c.2110_2111delinsCT	XP_011532561.1:n.2110_2111delinsCT
XM_011534260.1:c.2110_2111delinsCT	XP_011532562.1:n.2110_2111delinsCT
XM_011534261.1:c.2110_2111delinsCT	XP_011532563.1:n.2110_2111delinsCT
XM_011534262.1:c.2110_2111delinsCT	XP_011532564.1:n.2110_2111delinsCT
XM_011534263.1:c.2110_2111delinsCT	XP_011532565.1:n.2110_2111delinsCT
XM_011534264.1:c.2110_2111delinsCT	XP_011532566.1:n.2110_2111delinsCT
XM_011534265.1:c.2110_2111delinsCT	XP_011532567.1:n.2110_2111delinsCT
NM_001321103.1:c.2110_2111delinsCT	NP_001308032.1:n.2110_2111delinsCT
NM_001321104.1:c.2110_2111delinsCT	NP_001308033.1:n.2110_2111delinsCT
NM_001321105.1:c.2110_2111delinsCT	NP_001308034.1:n.2110_2111delinsCT
NM_001321106.1:c.2110_2111delinsCT	NP_001308035.1:n.2110_2111delinsCT
NM_001321107.1:c.2110_2111delinsCT	NP_001308036.1:n.2110_2111delinsCT
NM_001321108.1:c.2110_2111delinsCT	NP_001308037.1:n.2110_2111delinsCT
NR_135541.1:n.5850_5851delinsCT
NR_135542.1:n.5625_5626delinsCT
NR_135543.1:n.5517_5518delinsCT
NR_135544.1:n.5958_5959delinsCT
XM_005265598.5:c.2110_2111delinsCT	XP_005265655.1:n.2110_2111delinsCT
XM_005265600.5:c.2110_2111delinsCT	XP_005265657.1:n.2110_2111delinsCT
XM_006713421.3:c.2110_2111delinsCT	XP_006713484.1:n.2110_2111delinsCT
XM_011534256.3:c.2110_2111delinsCT	XP_011532558.1:n.2110_2111delinsCT
XM_011534258.2:c.2110_2111delinsCT	XP_011532560.1:n.2110_2111delinsCT
XM_011534261.3:c.2110_2111delinsCT	XP_011532563.1:n.2110_2111delinsCT
XM_011534263.3:c.2110_2111delinsCT	XP_011532565.1:n.2110_2111delinsCT
XM_011534265.2:c.2110_2111delinsCT	XP_011532567.1:n.2110_2111delinsCT
XM_017007526.2:c.2110_2111delinsCT	XP_016863015.1:n.2110_2111delinsCT
XM_017007527.2:c.2110_2111delinsCT	XP_016863016.1:n.2110_2111delinsCT
XM_017007528.1:c.2110_2111delinsCT	XP_016863017.1:n.2110_2111delinsCT
XM_017007529.1:c.2110_2111delinsCT	XP_016863018.1:n.2110_2111delinsCT
XR_001740371.2:n.5623_5624delinsCT
XR_001740372.2:n.5515_5516delinsCT
NM_001258379.2:c.2110_2111delinsCT	NP_001245308.1:n.2110_2111delinsCT
NM_001258380.2:c.2110_2111delinsCT	NP_001245309.1:n.2110_2111delinsCT
NM_001321103.2:c.2110_2111delinsCT MANE Select	NP_001308032.1:n.2110_2111delinsCT
NM_001321104.2:c.2110_2111delinsCT	NP_001308033.1:n.2110_2111delinsCT
NM_001321105.2:c.2110_2111delinsCT	NP_001308034.1:n.2110_2111delinsCT
NM_001321106.2:c.2110_2111delinsCT	NP_001308035.1:n.2110_2111delinsCT
NM_001321107.2:c.2110_2111delinsCT	NP_001308036.1:n.2110_2111delinsCT
NM_001321108.2:c.2110_2111delinsCT	NP_001308037.1:n.2110_2111delinsCT
NM_003615.5:c.2110_2111delinsCT	NP_003606.3:n.2110_2111delinsCT
NR_135541.2:n.5814_5815delinsCT
NR_135542.2:n.5589_5590delinsCT
NR_135543.2:n.5481_5482delinsCT
NR_135544.2:n.5922_5923delinsCT

HGVS	Amino-acid Change
ENST00000454389.6:c.2110_2111delinsCT MANE Select	ENSP00000390394.1:n.2110_2111delinsCT
ENST00000295736.9:c.2110_2111delinsCT	ENSP00000295736.5:n.2110_2111delinsCT
ENST00000419036.5:c.4516_4517delinsCT	ENSP00000411031.1:n.4516_4517delinsCT
ENST00000425128.6:c.2110_2111delinsCT	ENSP00000401949.3:n.2110_2111delinsCT
ENST00000428386.5:c.2110_2111delinsCT	ENSP00000416368.1:n.2110_2111delinsCT
NM_001258379.1:c.2110_2111delinsCT	NP_001245308.1:n.2110_2111delinsCT
NM_001258380.1:c.2110_2111delinsCT	NP_001245309.1:n.2110_2111delinsCT
NM_003615.4:c.2110_2111delinsCT	NP_003606.3:n.2110_2111delinsCT
XM_005265598.3:c.2110_2111delinsCT	XP_005265655.1:n.2110_2111delinsCT
XM_005265600.3:c.2110_2111delinsCT	XP_005265657.1:n.2110_2111delinsCT
XM_005265601.1:c.2110_2111delinsCT	XP_005265658.1:n.2110_2111delinsCT
XM_006713421.1:c.2110_2111delinsCT	XP_006713484.1:n.2110_2111delinsCT
XM_011534255.1:c.2110_2111delinsCT	XP_011532557.1:n.2110_2111delinsCT
XM_011534256.1:c.2110_2111delinsCT	XP_011532558.1:n.2110_2111delinsCT
XM_011534257.1:c.2110_2111delinsCT	XP_011532559.1:n.2110_2111delinsCT
XM_011534258.1:c.2110_2111delinsCT	XP_011532560.1:n.2110_2111delinsCT
XM_011534259.1:c.2110_2111delinsCT	XP_011532561.1:n.2110_2111delinsCT
XM_011534260.1:c.2110_2111delinsCT	XP_011532562.1:n.2110_2111delinsCT
XM_011534261.1:c.2110_2111delinsCT	XP_011532563.1:n.2110_2111delinsCT
XM_011534262.1:c.2110_2111delinsCT	XP_011532564.1:n.2110_2111delinsCT
XM_011534263.1:c.2110_2111delinsCT	XP_011532565.1:n.2110_2111delinsCT
XM_011534264.1:c.2110_2111delinsCT	XP_011532566.1:n.2110_2111delinsCT
XM_011534265.1:c.2110_2111delinsCT	XP_011532567.1:n.2110_2111delinsCT
NM_001321103.1:c.2110_2111delinsCT	NP_001308032.1:n.2110_2111delinsCT
NM_001321104.1:c.2110_2111delinsCT	NP_001308033.1:n.2110_2111delinsCT
NM_001321105.1:c.2110_2111delinsCT	NP_001308034.1:n.2110_2111delinsCT
NM_001321106.1:c.2110_2111delinsCT	NP_001308035.1:n.2110_2111delinsCT
NM_001321107.1:c.2110_2111delinsCT	NP_001308036.1:n.2110_2111delinsCT
NM_001321108.1:c.2110_2111delinsCT	NP_001308037.1:n.2110_2111delinsCT
NR_135541.1:n.5850_5851delinsCT
NR_135542.1:n.5625_5626delinsCT
NR_135543.1:n.5517_5518delinsCT
NR_135544.1:n.5958_5959delinsCT
XM_005265598.5:c.2110_2111delinsCT	XP_005265655.1:n.2110_2111delinsCT
XM_005265600.5:c.2110_2111delinsCT	XP_005265657.1:n.2110_2111delinsCT
XM_006713421.3:c.2110_2111delinsCT	XP_006713484.1:n.2110_2111delinsCT
XM_011534256.3:c.2110_2111delinsCT	XP_011532558.1:n.2110_2111delinsCT
XM_011534258.2:c.2110_2111delinsCT	XP_011532560.1:n.2110_2111delinsCT
XM_011534261.3:c.2110_2111delinsCT	XP_011532563.1:n.2110_2111delinsCT
XM_011534263.3:c.2110_2111delinsCT	XP_011532565.1:n.2110_2111delinsCT
XM_011534265.2:c.2110_2111delinsCT	XP_011532567.1:n.2110_2111delinsCT
XM_017007526.2:c.2110_2111delinsCT	XP_016863015.1:n.2110_2111delinsCT
XM_017007527.2:c.2110_2111delinsCT	XP_016863016.1:n.2110_2111delinsCT
XM_017007528.1:c.2110_2111delinsCT	XP_016863017.1:n.2110_2111delinsCT
XM_017007529.1:c.2110_2111delinsCT	XP_016863018.1:n.2110_2111delinsCT
XR_001740371.2:n.5623_5624delinsCT
XR_001740372.2:n.5515_5516delinsCT
NM_001258379.2:c.2110_2111delinsCT	NP_001245308.1:n.2110_2111delinsCT
NM_001258380.2:c.2110_2111delinsCT	NP_001245309.1:n.2110_2111delinsCT
NM_001321103.2:c.2110_2111delinsCT MANE Select	NP_001308032.1:n.2110_2111delinsCT
NM_001321104.2:c.2110_2111delinsCT	NP_001308033.1:n.2110_2111delinsCT
NM_001321105.2:c.2110_2111delinsCT	NP_001308034.1:n.2110_2111delinsCT
NM_001321106.2:c.2110_2111delinsCT	NP_001308035.1:n.2110_2111delinsCT
NM_001321107.2:c.2110_2111delinsCT	NP_001308036.1:n.2110_2111delinsCT
NM_001321108.2:c.2110_2111delinsCT	NP_001308037.1:n.2110_2111delinsCT
NM_003615.5:c.2110_2111delinsCT	NP_003606.3:n.2110_2111delinsCT
NR_135541.2:n.5814_5815delinsCT
NR_135542.2:n.5589_5590delinsCT
NR_135543.2:n.5481_5482delinsCT
NR_135544.2:n.5922_5923delinsCT