Canonical Allele Identifier: CA2631962082

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159559-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159561del , CM000678.2:g.16159561del	GRCh38
NC_000016.9:g.16253418del , CM000678.1:g.16253418del	GRCh37
NC_000016.8:g.16160919del	NCBI36
NG_007558.2:g.68912del
NG_007558.3:g.69058del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3657del	ENSP00000483331.2:p.Val1220PhefsTer7
ENST00000205557.12:c.3657del MANE Select	ENSP00000205557.7:p.Val1220PhefsTer7
ENST00000640696.1:c.471del	ENSP00000492197.1:p.Val158PhefsTer7
ENST00000205557.11:c.3657del	ENSP00000205557.7:p.Val1220PhefsTer7
ENST00000456970.6:c.3282del	ENSP00000405002.2:n.3282del
ENST00000622290.4:c.*866del	ENSP00000483331.1:n.*866del
NM_001171.5:c.3657del	NP_001162.4:p.Val1220PhefsTer7
XM_011522479.1:c.3624del	XP_011520781.1:p.Val1209PhefsTer7
XM_011522480.1:c.3315del	XP_011520782.1:p.Val1106PhefsTer7
XM_011522481.1:c.3315del	XP_011520783.1:p.Val1106PhefsTer7
XR_932836.1:n.3892del
XR_932837.1:n.3693del
XR_932838.1:n.3693del
XR_933134.1:n.539-220del
NM_001351800.1:c.3315del	NP_001338729.1:p.Val1106PhefsTer7
NR_147784.1:n.3319del
XM_011522479.2:c.3624del	XP_011520781.1:p.Val1209PhefsTer7
XM_011522481.3:c.3315del	XP_011520783.1:p.Val1106PhefsTer7
XM_017023212.1:c.3489del	XP_016878701.1:p.Val1164PhefsTer7
XM_024450261.1:c.3693del	XP_024306029.1:p.Val1232PhefsTer7
XR_932836.2:n.3838del
XR_932837.3:n.3638del
XR_932838.3:n.3638del
NM_001171.6:c.3657del MANE Select	NP_001162.5:p.Val1220PhefsTer7