Canonical Allele Identifier: CA718581527

Gene: ABCC1

Linked Data

• dbSNP Id: rs1320685281
• gnomAD v3: 16-16142317-GTTGA-G
• gnomAD v4: 16-16142317-GTTGA-G
• MyVariant Identifiers: chr16:g.16236175_16236178del (hg19) ; chr16:g.16142318_16142321del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16142324_16142327del , CM000678.2:g.16142324_16142327del	GRCh38
NC_000016.9:g.16236181_16236184del , CM000678.1:g.16236181_16236184del	GRCh37
NC_000016.8:g.16143682_16143685del	NCBI36
NG_028268.1:g.197748_197751del
NG_028268.2:g.197748_197751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.*1043_*1046del	ENSP00000382340.4:n.*1043_*1046del
ENST00000399410.8:c.*1043_*1046del MANE Select	ENSP00000382342.3:n.*1043_*1046del
ENST00000572882.3:c.*1043_*1046del	ENSP00000461615.2:n.*1043_*1046del
ENST00000676806.1:n.2365_2368del
ENST00000677164.1:c.*1043_*1046del	ENSP00000502873.1:n.*1043_*1046del
ENST00000678422.1:c.*2736_*2739del	ENSP00000503954.1:n.*2736_*2739del
ENST00000399408.6:c.*1043_*1046del	ENSP00000382340.3:n.*1043_*1046del
ENST00000399410.7:c.*1043_*1046del	ENSP00000382342.3:n.*1043_*1046del
NM_004996.3:c.*1043_*1046del	NP_004987.2:n.*1043_*1046del
XM_011522497.1:c.*1043_*1046del	XP_011520799.1:n.*1043_*1046del
XM_011522498.1:c.*1043_*1046del	XP_011520800.1:n.*1043_*1046del
XM_011522498.2:c.*1043_*1046del	XP_011520800.1:n.*1043_*1046del
XM_017023237.1:c.*1043_*1046del	XP_016878726.1:n.*1043_*1046del
XM_017023238.1:c.*1043_*1046del	XP_016878727.1:n.*1043_*1046del
XM_017023239.1:c.*1043_*1046del	XP_016878728.1:n.*1043_*1046del
XM_017023240.1:c.*1043_*1046del	XP_016878729.1:n.*1043_*1046del
XM_017023241.1:c.*1043_*1046del	XP_016878730.1:n.*1043_*1046del
XM_017023242.1:c.*1043_*1046del	XP_016878731.1:n.*1043_*1046del
NM_004996.4:c.*1043_*1046del MANE Select	NP_004987.2:n.*1043_*1046del