Canonical Allele Identifier: CA2631957138

Gene: ABCC1

Linked Data

• gnomAD v4: 16-16016601-T-TCGGAAACCATCCACGACCCTGTAAGTGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16016603_16016632dup , CM000678.2:g.16016603_16016632dup	GRCh38
NC_000016.9:g.16110460_16110489dup , CM000678.1:g.16110460_16110489dup	GRCh37
NC_000016.8:g.16017961_16017990dup	NCBI36
NG_028268.1:g.72027_72056dup
NG_028268.2:g.72027_72056dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.597_615+11dup
ENST00000399410.8:c.597_615+11dup
ENST00000572882.3:c.597_615+11dup
ENST00000574224.2:n.672_690+11dup
ENST00000677164.1:c.489+1975_489+2004dup	ENSP00000502873.1:n.489+1975_489+2004dup
ENST00000678422.1:c.597_615+11dup
ENST00000679043.1:n.549_567+11dup
ENST00000399408.6:c.-382_-364+11dup
ENST00000399410.7:c.597_615+11dup
ENST00000572882.2:c.292_310+11dup
ENST00000574224.1:n.197_215+11dup
NM_004996.3:c.597_615+11dup
XM_011522497.1:c.573_591+11dup
XM_011522498.1:c.651_669+11dup
XM_011522498.2:c.651_669+11dup
XM_017023237.1:c.651_669+11dup
XM_017023238.1:c.543+1975_543+2004dup	XP_016878727.1:n.543+1975_543+2004dup
XM_017023239.1:c.513_531+11dup
XM_017023240.1:c.651_669+11dup
XM_017023241.1:c.405+6702_405+6731dup	XP_016878730.1:n.405+6702_405+6731dup
XM_017023242.1:c.651_669+11dup
XM_017023243.2:c.651_669+11dup
NM_004996.4:c.597_615+11dup