Canonical Allele Identifier: CA2631958824

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154682-GCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154686_16154688del , CM000678.2:g.16154686_16154688del	GRCh38
NC_000016.9:g.16248543_16248545del , CM000678.1:g.16248543_16248545del	GRCh37
NC_000016.8:g.16156044_16156046del	NCBI36
NG_007558.2:g.73787_73789del
NG_007558.3:g.73933_73935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*323_*325del	ENSP00000483331.2:n.*323_*325del
ENST00000205557.12:c.4151_4153del MANE Select	ENSP00000205557.7:p.Val1384del
ENST00000640696.1:c.965_967del	ENSP00000492197.1:p.Val322del
ENST00000205557.11:c.4151_4153del	ENSP00000205557.7:p.Val1384del
ENST00000456970.6:c.3776_3778del	ENSP00000405002.2:n.3776_3778del
ENST00000576204.5:n.1014_1016del
ENST00000622290.4:c.*1360_*1362del	ENSP00000483331.1:n.*1360_*1362del
NM_001171.5:c.4151_4153del	NP_001162.4:p.Val1384del
XM_011522479.1:c.4118_4120del	XP_011520781.1:p.Val1373del
XM_011522480.1:c.3809_3811del	XP_011520782.1:p.Val1270del
XM_011522481.1:c.3809_3811del	XP_011520783.1:p.Val1270del
XR_933134.1:n.539-5095_539-5093del
NM_001351800.1:c.3809_3811del	NP_001338729.1:p.Val1270del
NR_147784.1:n.3813_3815del
XM_011522479.2:c.4118_4120del	XP_011520781.1:p.Val1373del
XM_011522481.3:c.3809_3811del	XP_011520783.1:p.Val1270del
XM_017023212.1:c.3983_3985del	XP_016878701.1:p.Val1328del
XM_024450261.1:c.4187_4189del	XP_024306029.1:p.Val1396del
NM_001171.6:c.4151_4153del MANE Select	NP_001162.5:p.Val1384del