Canonical Allele Identifier: CA718515627

Gene: ABCC1

Linked Data

• dbSNP Id: rs557756589
• gnomAD v3: 16-16034970-CAGAG-C
• gnomAD v4: 16-16034970-CAGAG-C
• MyVariant Identifiers: chr16:g.16128828_16128831del (hg19) ; chr16:g.16034971_16034974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16034972_16034975del , CM000678.2:g.16034972_16034975del	GRCh38
NC_000016.9:g.16128829_16128832del , CM000678.1:g.16128829_16128832del	GRCh37
NC_000016.8:g.16036330_16036333del	NCBI36
NG_028268.1:g.90396_90399del
NG_028268.2:g.90396_90399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.678-1500_678-1497del	ENSP00000382340.4:n.678-1500_678-1497del
ENST00000399410.8:c.678-1500_678-1497del MANE Select	ENSP00000382342.3:n.678-1500_678-1497del
ENST00000572882.3:c.678-1500_678-1497del	ENSP00000461615.2:n.678-1500_678-1497del
ENST00000574224.2:n.753-1500_753-1497del
ENST00000677164.1:c.552-1500_552-1497del	ENSP00000502873.1:n.552-1500_552-1497del
ENST00000678422.1:c.678-1500_678-1497del	ENSP00000503954.1:n.678-1500_678-1497del
ENST00000679043.1:n.630-1500_630-1497del
ENST00000399408.6:c.-301-1500_-301-1497del	ENSP00000382340.3:n.-301-1500_-301-1497del
ENST00000399410.7:c.678-1500_678-1497del	ENSP00000382342.3:n.678-1500_678-1497del
ENST00000572882.2:c.373-1500_373-1497del
ENST00000574224.1:n.278-1500_278-1497del
NM_004996.3:c.678-1500_678-1497del	NP_004987.2:n.678-1500_678-1497del
XM_011522497.1:c.654-1500_654-1497del	XP_011520799.1:n.654-1500_654-1497del
XM_011522498.1:c.732-1500_732-1497del	XP_011520800.1:n.732-1500_732-1497del
XM_011522498.2:c.732-1500_732-1497del	XP_011520800.1:n.732-1500_732-1497del
XM_017023237.1:c.732-1500_732-1497del	XP_016878726.1:n.732-1500_732-1497del
XM_017023238.1:c.606-1500_606-1497del	XP_016878727.1:n.606-1500_606-1497del
XM_017023239.1:c.594-1500_594-1497del	XP_016878728.1:n.594-1500_594-1497del
XM_017023240.1:c.732-1500_732-1497del	XP_016878729.1:n.732-1500_732-1497del
XM_017023241.1:c.468-1500_468-1497del	XP_016878730.1:n.468-1500_468-1497del
XM_017023242.1:c.732-1500_732-1497del	XP_016878731.1:n.732-1500_732-1497del
XM_017023243.2:c.732-1500_732-1497del	XP_016878732.1:n.732-1500_732-1497del
NM_004996.4:c.678-1500_678-1497del MANE Select	NP_004987.2:n.678-1500_678-1497del