Canonical Allele Identifier: CA2592009162

Gene: ABCC1

Linked Data

• dbSNP Id: rs2152195706
• gnomAD v3: 16-16142511-C-CAA
• gnomAD v4: 16-16142511-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16142511_16142512insAA , CM000678.2:g.16142511_16142512insAA	GRCh38
NC_000016.9:g.16236368_16236369insAA , CM000678.1:g.16236368_16236369insAA	GRCh37
NC_000016.8:g.16143869_16143870insAA	NCBI36
NG_028268.1:g.197935_197936insAA
NG_028268.2:g.197935_197936insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.*1230_*1231insAA	ENSP00000382340.4:n.*1230_*1231insAA
ENST00000399410.8:c.*1230_*1231insAA MANE Select	ENSP00000382342.3:n.*1230_*1231insAA
ENST00000572882.3:c.*1230_*1231insAA	ENSP00000461615.2:n.*1230_*1231insAA
ENST00000676806.1:n.2552_2553insAA
ENST00000677164.1:c.*1230_*1231insAA	ENSP00000502873.1:n.*1230_*1231insAA
ENST00000678422.1:c.*2923_*2924insAA	ENSP00000503954.1:n.*2923_*2924insAA
ENST00000399408.6:c.*1230_*1231insAA	ENSP00000382340.3:n.*1230_*1231insAA
ENST00000399410.7:c.*1230_*1231insAA	ENSP00000382342.3:n.*1230_*1231insAA
NM_004996.3:c.*1230_*1231insAA	NP_004987.2:n.*1230_*1231insAA
XM_011522497.1:c.*1230_*1231insAA	XP_011520799.1:n.*1230_*1231insAA
XM_011522498.1:c.*1230_*1231insAA	XP_011520800.1:n.*1230_*1231insAA
XM_011522498.2:c.*1230_*1231insAA	XP_011520800.1:n.*1230_*1231insAA
XM_017023237.1:c.*1230_*1231insAA	XP_016878726.1:n.*1230_*1231insAA
XM_017023238.1:c.*1230_*1231insAA	XP_016878727.1:n.*1230_*1231insAA
XM_017023239.1:c.*1230_*1231insAA	XP_016878728.1:n.*1230_*1231insAA
XM_017023240.1:c.*1230_*1231insAA	XP_016878729.1:n.*1230_*1231insAA
XM_017023241.1:c.*1230_*1231insAA	XP_016878730.1:n.*1230_*1231insAA
XM_017023242.1:c.*1230_*1231insAA	XP_016878731.1:n.*1230_*1231insAA
NM_004996.4:c.*1230_*1231insAA MANE Select	NP_004987.2:n.*1230_*1231insAA