Canonical Allele Identifier: CA2631972897

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16198158-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198160del , CM000678.2:g.16198160del	GRCh38
NC_000016.9:g.16292017del , CM000678.1:g.16292017del	GRCh37
NC_000016.8:g.16199518del	NCBI36
NG_007558.2:g.30313del
NG_007558.3:g.30459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1200del	ENSP00000507301.1:p.Arg401GlufsTer20
ENST00000622290.5:c.1200del	ENSP00000483331.2:p.Arg401GlufsTer20
ENST00000205557.12:c.1200del MANE Select	ENSP00000205557.7:p.Arg401GlufsTer20
ENST00000205557.11:c.1200del	ENSP00000205557.7:p.Arg401GlufsTer20
ENST00000456970.6:c.1200del	ENSP00000405002.2:p.Arg401GlufsTer20
ENST00000574094.5:n.1296del
ENST00000622290.4:c.1200del	ENSP00000483331.1:p.Arg401GlufsTer20
NM_001171.5:c.1200del	NP_001162.4:p.Arg401GlufsTer20
XM_011522479.1:c.1200del	XP_011520781.1:p.Arg401GlufsTer20
XM_011522480.1:c.858del	XP_011520782.1:p.Arg287GlufsTer20
XM_011522481.1:c.858del	XP_011520783.1:p.Arg287GlufsTer20
XM_011522482.1:c.1200del	XP_011520784.1:p.Arg401GlufsTer20
XR_932836.1:n.1435del
XR_932837.1:n.1436del
XR_932838.1:n.1436del
NM_001351800.1:c.858del	NP_001338729.1:p.Arg287GlufsTer20
NR_147784.1:n.1237del
XM_011522479.2:c.1200del	XP_011520781.1:p.Arg401GlufsTer20
XM_011522481.3:c.858del	XP_011520783.1:p.Arg287GlufsTer20
XM_011522482.3:c.1200del	XP_011520784.1:p.Arg401GlufsTer20
XM_017023212.1:c.1200del	XP_016878701.1:p.Arg401GlufsTer20
XM_017023214.1:c.1200del	XP_016878703.1:p.Arg401GlufsTer20
XM_024450261.1:c.1236del	XP_024306029.1:p.Arg413GlufsTer20
XR_932836.2:n.1381del
XR_932837.3:n.1381del
XR_932838.3:n.1381del
NM_001171.6:c.1200del MANE Select	NP_001162.5:p.Arg401GlufsTer20