Canonical Allele Identifier: CA2631961448

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16149971-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149974_16149975del , CM000678.2:g.16149974_16149975del	GRCh38
NC_000016.9:g.16243831_16243832del , CM000678.1:g.16243831_16243832del	GRCh37
NC_000016.8:g.16151332_16151333del	NCBI36
NG_007558.2:g.78499_78500del
NG_007558.3:g.78645_78646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*844_*845del	ENSP00000483331.2:n.*844_*845del
ENST00000205557.12:c.*160_*161del MANE Select	ENSP00000205557.7:n.*160_*161del
ENST00000640696.1:c.1486_1487del	ENSP00000492197.1:n.1486_1487del
ENST00000205557.11:c.*160_*161del	ENSP00000205557.7:n.*160_*161del
ENST00000576204.5:n.1535_1536del
ENST00000622290.4:c.*1881_*1882del	ENSP00000483331.1:n.*1881_*1882del
NM_001171.5:c.*160_*161del	NP_001162.4:n.*160_*161del
XM_011522479.1:c.*160_*161del	XP_011520781.1:n.*160_*161del
XM_011522480.1:c.*160_*161del	XP_011520782.1:n.*160_*161del
XM_011522481.1:c.*160_*161del	XP_011520783.1:n.*160_*161del
XR_933134.1:n.538+5684_538+5685del
NM_001351800.1:c.*160_*161del	NP_001338729.1:n.*160_*161del
NR_147784.1:n.4334_4335del
XM_011522479.2:c.*160_*161del	XP_011520781.1:n.*160_*161del
XM_011522481.3:c.*160_*161del	XP_011520783.1:n.*160_*161del
XM_017023212.1:c.*160_*161del	XP_016878701.1:n.*160_*161del
XM_024450261.1:c.*160_*161del	XP_024306029.1:n.*160_*161del
NM_001171.6:c.*160_*161del MANE Select	NP_001162.5:n.*160_*161del