Canonical Allele Identifier: CA2631961982

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159499-CA-C

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3717del	ENSP00000483331.2:p.Tyr1239Ter
ENST00000205557.12:c.3717del MANE Select	ENSP00000205557.7:p.Tyr1239Ter
ENST00000640696.1:c.531del	ENSP00000492197.1:p.Tyr177Ter
ENST00000205557.11:c.3717del	ENSP00000205557.7:p.Tyr1239Ter
ENST00000456970.6:c.3342del	ENSP00000405002.2:n.3342del
ENST00000622290.4:c.*926del	ENSP00000483331.1:n.*926del
NM_001171.5:c.3717del	NP_001162.4:p.Tyr1239Ter
XM_011522479.1:c.3684del	XP_011520781.1:p.Tyr1228Ter
XM_011522480.1:c.3375del	XP_011520782.1:p.Tyr1125Ter
XM_011522481.1:c.3375del	XP_011520783.1:p.Tyr1125Ter
XR_932836.1:n.3952del
XR_932837.1:n.3753del
XR_932838.1:n.3753del
XR_933134.1:n.539-281del
NM_001351800.1:c.3375del	NP_001338729.1:p.Tyr1125Ter
NR_147784.1:n.3379del
XM_011522479.2:c.3684del	XP_011520781.1:p.Tyr1228Ter
XM_011522481.3:c.3375del	XP_011520783.1:p.Tyr1125Ter
XM_017023212.1:c.3549del	XP_016878701.1:p.Tyr1183Ter
XM_024450261.1:c.3753del	XP_024306029.1:p.Tyr1251Ter
XR_932836.2:n.3898del
XR_932837.3:n.3698del
XR_932838.3:n.3698del
NM_001171.6:c.3717del MANE Select	NP_001162.5:p.Tyr1239Ter