Canonical Allele Identifier: CA278676770

Gene: ABCC6

Linked Data

• dbSNP Id: rs1046443899
• gnomAD v2: 16-16248459-TC-T
• gnomAD v4: 16-16154602-TC-T
• MyVariant Identifiers: chr16:g.16248460del (hg19) ; chr16:g.16154603del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154605del , CM000678.2:g.16154605del	GRCh38
NC_000016.9:g.16248462del , CM000678.1:g.16248462del	GRCh37
NC_000016.8:g.16155963del	NCBI36
NG_007558.2:g.73869del
NG_007558.3:g.74015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*380+25del	ENSP00000483331.2:n.*380+25del
ENST00000205557.12:c.4208+25del MANE Select	ENSP00000205557.7:n.4208+25del
ENST00000640696.1:c.1022+25del	ENSP00000492197.1:n.1022+25del
ENST00000205557.11:c.4208+25del	ENSP00000205557.7:n.4208+25del
ENST00000456970.6:c.3833+25del	ENSP00000405002.2:n.3833+25del
ENST00000576204.5:n.1071+25del
ENST00000622290.4:c.*1417+25del	ENSP00000483331.1:n.*1417+25del
NM_001171.5:c.4208+25del	NP_001162.4:n.4208+25del
XM_011522479.1:c.4175+25del	XP_011520781.1:n.4175+25del
XM_011522480.1:c.3866+25del	XP_011520782.1:n.3866+25del
XM_011522481.1:c.3866+25del	XP_011520783.1:n.3866+25del
XR_933134.1:n.539-5176del
NM_001351800.1:c.3866+25del	NP_001338729.1:n.3866+25del
NR_147784.1:n.3870+25del
XM_011522479.2:c.4175+25del	XP_011520781.1:n.4175+25del
XM_011522481.3:c.3866+25del	XP_011520783.1:n.3866+25del
XM_017023212.1:c.4040+25del	XP_016878701.1:n.4040+25del
XM_024450261.1:c.4244+25del	XP_024306029.1:n.4244+25del
NM_001171.6:c.4208+25del MANE Select	NP_001162.5:n.4208+25del