Canonical Allele Identifier: CA2210140618

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046487172
• gnomAD v4: 16-16154768-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154769del , CM000678.2:g.16154769del	GRCh38
NC_000016.9:g.16248626del , CM000678.1:g.16248626del	GRCh37
NC_000016.8:g.16156127del	NCBI36
NG_007558.2:g.73703del
NG_007558.3:g.73849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.930del
ENST00000622290.5:c.*239del	ENSP00000483331.2:n.*239del
ENST00000205557.12:c.4067del MANE Select	ENSP00000205557.7:p.Leu1356ArgfsTer3
ENST00000640696.1:c.881del	ENSP00000492197.1:p.Leu294ArgfsTer3
ENST00000205557.11:c.4067del	ENSP00000205557.7:p.Leu1356ArgfsTer3
ENST00000456970.6:c.3692del	ENSP00000405002.2:n.3692del
ENST00000576204.5:n.930del
ENST00000622290.4:c.*1276del	ENSP00000483331.1:n.*1276del
NM_001171.5:c.4067del	NP_001162.4:p.Leu1356ArgfsTer3
XM_011522479.1:c.4034del	XP_011520781.1:p.Leu1345ArgfsTer3
XM_011522480.1:c.3725del	XP_011520782.1:p.Leu1242ArgfsTer3
XM_011522481.1:c.3725del	XP_011520783.1:p.Leu1242ArgfsTer3
XR_933134.1:n.539-5012del
NM_001351800.1:c.3725del	NP_001338729.1:p.Leu1242ArgfsTer3
NR_147784.1:n.3729del
XM_011522479.2:c.4034del	XP_011520781.1:p.Leu1345ArgfsTer3
XM_011522481.3:c.3725del	XP_011520783.1:p.Leu1242ArgfsTer3
XM_017023212.1:c.3899del	XP_016878701.1:p.Leu1300ArgfsTer3
XM_024450261.1:c.4103del	XP_024306029.1:p.Leu1368ArgfsTer3
NM_001171.6:c.4067del MANE Select	NP_001162.5:p.Leu1356ArgfsTer3