Canonical Allele Identifier: CA2631961975

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159499-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159500dup , CM000678.2:g.16159500dup	GRCh38
NC_000016.9:g.16253357dup , CM000678.1:g.16253357dup	GRCh37
NC_000016.8:g.16160858dup	NCBI36
NG_007558.2:g.68972dup
NG_007558.3:g.69118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3717dup	ENSP00000483331.2:p.Ala1240CysfsTer?
ENST00000205557.12:c.3717dup MANE Select	ENSP00000205557.7:p.Ala1240CysfsTer?
ENST00000640696.1:c.531dup	ENSP00000492197.1:p.Ala178CysfsTer?
ENST00000205557.11:c.3717dup	ENSP00000205557.7:p.Ala1240CysfsTer?
ENST00000456970.6:c.3342dup	ENSP00000405002.2:n.3342dup
ENST00000622290.4:c.*926dup	ENSP00000483331.1:n.*926dup
NM_001171.5:c.3717dup	NP_001162.4:p.Ala1240CysfsTer?
XM_011522479.1:c.3684dup	XP_011520781.1:p.Ala1229CysfsTer?
XM_011522480.1:c.3375dup	XP_011520782.1:p.Ala1126CysfsTer?
XM_011522481.1:c.3375dup	XP_011520783.1:p.Ala1126CysfsTer?
XR_932836.1:n.3952dup
XR_932837.1:n.3753dup
XR_932838.1:n.3753dup
XR_933134.1:n.539-281dup
NM_001351800.1:c.3375dup	NP_001338729.1:p.Ala1126CysfsTer?
NR_147784.1:n.3379dup
XM_011522479.2:c.3684dup	XP_011520781.1:p.Ala1229CysfsTer?
XM_011522481.3:c.3375dup	XP_011520783.1:p.Ala1126CysfsTer?
XM_017023212.1:c.3549dup	XP_016878701.1:p.Ala1184CysfsTer?
XM_024450261.1:c.3753dup	XP_024306029.1:p.Ala1252CysfsTer?
XR_932836.2:n.3898dup
XR_932837.3:n.3698dup
XR_932838.3:n.3698dup
NM_001171.6:c.3717dup MANE Select	NP_001162.5:p.Ala1240CysfsTer?