Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81932928_81932929delinsAC , CM000679.2:g.81932928_81932929delinsAC	GRCh38
NC_000017.10:g.79890804_79890805delinsAC , CM000679.1:g.79890804_79890805delinsAC	GRCh37
NC_000017.9:g.77484095_77484096delinsAC	NCBI36
NG_023032.1:g.9164_9165delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.285_286delinsGT MANE Select	ENSP00000328858.8:n.285_286delinsGT
ENST00000329875.12:c.285_286delinsGT	ENSP00000328858.8:n.285_286delinsGT
ENST00000337943.9:c.902_903delinsGT	ENSP00000336579.5:p.Gly301=
ENST00000403172.8:c.285_286delinsGT	ENSP00000385483.4:n.285_286delinsGT
ENST00000577756.5:c.427_428delinsGT	ENSP00000463352.1:n.427_428delinsGT
ENST00000619204.4:c.285_286delinsGT	ENSP00000479793.1:n.285_286delinsGT
ENST00000629768.2:c.427_428delinsGT	ENSP00000485679.1:n.427_428delinsGT
NM_001282279.1:c.285_286delinsGT	NP_001269208.1:n.285_286delinsGT
NM_001282280.1:c.285_286delinsGT	NP_001269209.1:n.285_286delinsGT
NM_001282281.1:c.285_286delinsGT	NP_001269210.1:n.285_286delinsGT
NM_006907.3:c.285_286delinsGT	NP_008838.2:n.285_286delinsGT
NM_153824.2:c.902_903delinsGT	NP_722546.1:p.Gly301=
XM_005256381.1:c.285_286delinsGT	XP_005256438.1:n.285_286delinsGT
XM_011523583.1:c.285_286delinsGT	XP_011521885.1:n.285_286delinsGT
XM_011523584.1:c.285_286delinsGT	XP_011521886.1:n.285_286delinsGT
XM_011523585.1:c.427_428delinsGT	XP_011521887.1:n.427_428delinsGT
NM_001330523.1:c.427_428delinsGT	NP_001317452.1:n.427_428delinsGT
XM_005256381.2:c.285_286delinsGT	XP_005256438.1:n.285_286delinsGT
XM_011523583.2:c.285_286delinsGT	XP_011521885.1:n.285_286delinsGT
XM_011523584.3:c.285_286delinsGT	XP_011521886.1:n.285_286delinsGT
XM_011523585.2:c.427_428delinsGT	XP_011521887.1:n.427_428delinsGT
XM_024450849.1:c.285_286delinsGT	XP_024306617.1:n.285_286delinsGT
NM_001282279.2:c.285_286delinsGT	NP_001269208.1:n.285_286delinsGT
NM_001282281.2:c.285_286delinsGT	NP_001269210.1:n.285_286delinsGT
NM_006907.4:c.285_286delinsGT MANE Select	NP_008838.2:n.285_286delinsGT
NM_153824.3:c.902_903delinsGT	NP_722546.1:p.Gly301=
NM_001282280.2:c.285_286delinsGT	NP_001269209.1:n.285_286delinsGT
NM_001330523.2:c.427_428delinsGT	NP_001317452.1:n.427_428delinsGT

HGVS	Amino-acid Change
ENST00000329875.13:c.285_286delinsGT MANE Select	ENSP00000328858.8:n.285_286delinsGT
ENST00000329875.12:c.285_286delinsGT	ENSP00000328858.8:n.285_286delinsGT
ENST00000337943.9:c.902_903delinsGT	ENSP00000336579.5:p.Gly301=
ENST00000403172.8:c.285_286delinsGT	ENSP00000385483.4:n.285_286delinsGT
ENST00000577756.5:c.427_428delinsGT	ENSP00000463352.1:n.427_428delinsGT
ENST00000619204.4:c.285_286delinsGT	ENSP00000479793.1:n.285_286delinsGT
ENST00000629768.2:c.427_428delinsGT	ENSP00000485679.1:n.427_428delinsGT
NM_001282279.1:c.285_286delinsGT	NP_001269208.1:n.285_286delinsGT
NM_001282280.1:c.285_286delinsGT	NP_001269209.1:n.285_286delinsGT
NM_001282281.1:c.285_286delinsGT	NP_001269210.1:n.285_286delinsGT
NM_006907.3:c.285_286delinsGT	NP_008838.2:n.285_286delinsGT
NM_153824.2:c.902_903delinsGT	NP_722546.1:p.Gly301=
XM_005256381.1:c.285_286delinsGT	XP_005256438.1:n.285_286delinsGT
XM_011523583.1:c.285_286delinsGT	XP_011521885.1:n.285_286delinsGT
XM_011523584.1:c.285_286delinsGT	XP_011521886.1:n.285_286delinsGT
XM_011523585.1:c.427_428delinsGT	XP_011521887.1:n.427_428delinsGT
NM_001330523.1:c.427_428delinsGT	NP_001317452.1:n.427_428delinsGT
XM_005256381.2:c.285_286delinsGT	XP_005256438.1:n.285_286delinsGT
XM_011523583.2:c.285_286delinsGT	XP_011521885.1:n.285_286delinsGT
XM_011523584.3:c.285_286delinsGT	XP_011521886.1:n.285_286delinsGT
XM_011523585.2:c.427_428delinsGT	XP_011521887.1:n.427_428delinsGT
XM_024450849.1:c.285_286delinsGT	XP_024306617.1:n.285_286delinsGT
NM_001282279.2:c.285_286delinsGT	NP_001269208.1:n.285_286delinsGT
NM_001282281.2:c.285_286delinsGT	NP_001269210.1:n.285_286delinsGT
NM_006907.4:c.285_286delinsGT MANE Select	NP_008838.2:n.285_286delinsGT
NM_153824.3:c.902_903delinsGT	NP_722546.1:p.Gly301=
NM_001282280.2:c.285_286delinsGT	NP_001269209.1:n.285_286delinsGT
NM_001330523.2:c.427_428delinsGT	NP_001317452.1:n.427_428delinsGT