Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113132876_113132877delinsGC , CM000664.2:g.113132876_113132877delinsGC	GRCh38
NC_000002.11:g.113890453_113890454delinsGC , CM000664.1:g.113890453_113890454delinsGC	GRCh37
NC_000002.10:g.113606924_113606925delinsGC	NCBI36
NG_021240.1:g.19984_19985delinsGC , LRG_188:g.19984_19985delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409052.6:c.5_6delinsGC	ENSP00000387210.1:n.5_6delinsGC
ENST00000696879.1:c.5_6delinsGC	ENSP00000512947.1:n.5_6delinsGC
ENST00000696880.1:c.5_6delinsGC	ENSP00000512948.1:n.5_6delinsGC
ENST00000696881.1:c.5_6delinsGC	ENSP00000512949.1:n.5_6delinsGC
ENST00000696882.1:c.309_310delinsGC	ENSP00000512950.1:n.309_310delinsGC
ENST00000696883.1:n.484_485delinsGC
ENST00000409930.4:c.5_6delinsGC MANE Select	ENSP00000387173.3:n.5_6delinsGC
ENST00000259206.9:c.5_6delinsGC	ENSP00000259206.5:n.5_6delinsGC
ENST00000354115.6:c.5_6delinsGC	ENSP00000329072.3:n.5_6delinsGC
ENST00000361779.7:c.5_6delinsGC	ENSP00000354816.3:n.5_6delinsGC
ENST00000409052.5:c.5_6delinsGC	ENSP00000387210.1:n.5_6delinsGC
ENST00000409930.3:c.5_6delinsGC	ENSP00000387173.3:n.5_6delinsGC
NM_000577.4:c.5_6delinsGC	NP_000568.1:n.5_6delinsGC
NM_173841.2:c.5_6delinsGC , LRG_188t1:c.5_6delinsGC	NP_776213.1:n.5_6delinsGC
NM_173842.2:c.5_6delinsGC	NP_776214.1:n.5_6delinsGC
NM_173843.2:c.5_6delinsGC	NP_776215.1:n.5_6delinsGC
XM_005263661.3:c.5_6delinsGC	XP_005263718.1:n.5_6delinsGC
XM_006712497.2:c.5_6delinsGC	XP_006712560.1:n.5_6delinsGC
XM_011511121.1:c.5_6delinsGC	XP_011509423.1:n.5_6delinsGC
NM_001318914.1:c.5_6delinsGC	NP_001305843.1:n.5_6delinsGC
XM_005263661.4:c.5_6delinsGC	XP_005263718.1:n.5_6delinsGC
NM_000577.5:c.5_6delinsGC	NP_000568.1:n.5_6delinsGC
NM_001318914.2:c.5_6delinsGC	NP_001305843.1:n.5_6delinsGC
NM_173842.3:c.5_6delinsGC MANE Select	NP_776214.1:n.5_6delinsGC
NM_173843.3:c.5_6delinsGC	NP_776215.1:n.5_6delinsGC
NM_001379360.1:c.5_6delinsGC	NP_001366289.1:n.5_6delinsGC
NM_173841.3:c.5_6delinsGC	NP_776213.1:n.5_6delinsGC

HGVS	Amino-acid Change
ENST00000409052.6:c.5_6delinsGC	ENSP00000387210.1:n.5_6delinsGC
ENST00000696879.1:c.5_6delinsGC	ENSP00000512947.1:n.5_6delinsGC
ENST00000696880.1:c.5_6delinsGC	ENSP00000512948.1:n.5_6delinsGC
ENST00000696881.1:c.5_6delinsGC	ENSP00000512949.1:n.5_6delinsGC
ENST00000696882.1:c.309_310delinsGC	ENSP00000512950.1:n.309_310delinsGC
ENST00000696883.1:n.484_485delinsGC
ENST00000409930.4:c.5_6delinsGC MANE Select	ENSP00000387173.3:n.5_6delinsGC
ENST00000259206.9:c.5_6delinsGC	ENSP00000259206.5:n.5_6delinsGC
ENST00000354115.6:c.5_6delinsGC	ENSP00000329072.3:n.5_6delinsGC
ENST00000361779.7:c.5_6delinsGC	ENSP00000354816.3:n.5_6delinsGC
ENST00000409052.5:c.5_6delinsGC	ENSP00000387210.1:n.5_6delinsGC
ENST00000409930.3:c.5_6delinsGC	ENSP00000387173.3:n.5_6delinsGC
NM_000577.4:c.5_6delinsGC	NP_000568.1:n.5_6delinsGC
NM_173841.2:c.5_6delinsGC , LRG_188t1:c.5_6delinsGC	NP_776213.1:n.5_6delinsGC
NM_173842.2:c.5_6delinsGC	NP_776214.1:n.5_6delinsGC
NM_173843.2:c.5_6delinsGC	NP_776215.1:n.5_6delinsGC
XM_005263661.3:c.5_6delinsGC	XP_005263718.1:n.5_6delinsGC
XM_006712497.2:c.5_6delinsGC	XP_006712560.1:n.5_6delinsGC
XM_011511121.1:c.5_6delinsGC	XP_011509423.1:n.5_6delinsGC
NM_001318914.1:c.5_6delinsGC	NP_001305843.1:n.5_6delinsGC
XM_005263661.4:c.5_6delinsGC	XP_005263718.1:n.5_6delinsGC
NM_000577.5:c.5_6delinsGC	NP_000568.1:n.5_6delinsGC
NM_001318914.2:c.5_6delinsGC	NP_001305843.1:n.5_6delinsGC
NM_173842.3:c.5_6delinsGC MANE Select	NP_776214.1:n.5_6delinsGC
NM_173843.3:c.5_6delinsGC	NP_776215.1:n.5_6delinsGC
NM_001379360.1:c.5_6delinsGC	NP_001366289.1:n.5_6delinsGC
NM_173841.3:c.5_6delinsGC	NP_776213.1:n.5_6delinsGC