Canonical Allele Identifier: CA1637718

Gene: ABCG8

Linked Data

• dbSNP Id: rs777894067
• ExAC: 2:44104932 GCTGGACTCGTACC / G
• gnomAD v2: 2-44104932-GCTGGACTCGTACC-G
• MyVariant Identifiers: chr2:g.44104933_44104945del (hg19) ; chr2:g.43877794_43877806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877796_43877808del , CM000664.2:g.43877796_43877808del	GRCh38
NC_000002.11:g.44104935_44104947del , CM000664.1:g.44104935_44104947del	GRCh37
NC_000002.10:g.43958439_43958451del	NCBI36
NG_008884.1:g.43833_43845del
NG_008884.2:g.50855_50867del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1905_1917del MANE Select	ENSP00000272286.2:p.Asp636SerfsTer23
ENST00000272286.2:c.1905_1917del	ENSP00000272286.2:p.Asp636SerfsTer23
NM_022437.2:c.1905_1917del	NP_071882.1:p.Asp636SerfsTer23
XM_005264483.2:c.1902_1914del	XP_005264540.1:p.Asp635SerfsTer23
XM_011533029.1:c.1917_1929del	XP_011531331.1:p.Asp640SerfsTer23
XM_011533030.1:c.1914_1926del	XP_011531332.1:p.Asp639SerfsTer23
XM_011533031.1:c.1689_1701del	XP_011531333.1:p.Asp564SerfsTer23
XR_939707.1:n.2407_2419del
NM_001357321.1:c.1902_1914del	NP_001344250.1:p.Asp635SerfsTer23
XM_011533029.2:c.1917_1929del	XP_011531331.1:p.Asp640SerfsTer23
XM_011533030.2:c.1914_1926del	XP_011531332.1:p.Asp639SerfsTer23
XR_001738891.1:n.2421_2433del
XR_939707.2:n.2421_2433del
NM_022437.3:c.1905_1917del MANE Select	NP_071882.1:p.Asp636SerfsTer23
NM_001357321.2:c.1902_1914del	NP_001344250.1:p.Asp635SerfsTer23