Canonical Allele Identifier: CA7924923

Gene: ABCC1

Linked Data

• dbSNP Id: rs763608274
• ExAC: 16:16228256 GC / G
• gnomAD v2: 16-16228256-GC-G
• gnomAD v4: 16-16134399-GC-G
• MyVariant Identifiers: chr16:g.16228257del (hg19) ; chr16:g.16134400del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134400del , CM000678.2:g.16134400del	GRCh38
NC_000016.9:g.16228257del , CM000678.1:g.16228257del	GRCh37
NC_000016.8:g.16135758del	NCBI36
NG_028268.1:g.189824del
NG_028268.2:g.189824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000399408.7:c.4047del	ENSP00000382340.4:p.Leu1350TyrfsTer?
ENST00000399410.8:c.4017del MANE Select	ENSP00000382342.3:p.Leu1340TyrfsTer?
ENST00000572882.3:c.3840del	ENSP00000461615.2:p.Leu1281TyrfsTer?
ENST00000676806.1:n.743del
ENST00000677164.1:c.3546del	ENSP00000502873.1:p.Leu1183TyrfsTer?
ENST00000678422.1:c.*1309del	ENSP00000503954.1:n.*1309del
ENST00000399408.6:c.3069del	ENSP00000382340.3:p.Leu1024TyrfsTer?
ENST00000399410.7:c.4017del	ENSP00000382342.3:p.Leu1340TyrfsTer?
ENST00000572882.2:c.3742del
NM_004996.3:c.4017del	NP_004987.2:p.Leu1340TyrfsTer?
XM_011522497.1:c.3993del	XP_011520799.1:p.Leu1332TyrfsTer?
XM_011522498.1:c.3924del	XP_011520800.1:p.Leu1309TyrfsTer?
XM_011522498.2:c.3924del	XP_011520800.1:p.Leu1309TyrfsTer?
XM_017023237.1:c.4071del	XP_016878726.1:p.Leu1358TyrfsTer?
XM_017023238.1:c.3945del	XP_016878727.1:p.Leu1316TyrfsTer?
XM_017023239.1:c.3933del	XP_016878728.1:p.Leu1312TyrfsTer?
XM_017023240.1:c.3894del	XP_016878729.1:p.Leu1299TyrfsTer?
XM_017023241.1:c.3807del	XP_016878730.1:p.Leu1270TyrfsTer?
XM_017023242.1:c.3726del	XP_016878731.1:p.Leu1243TyrfsTer?
NM_004996.4:c.4017del MANE Select	NP_004987.2:p.Leu1340TyrfsTer?