Canonical Allele Identifier: CA718586208

Gene: ABCC6

Linked Data

• dbSNP Id: rs1205637312
• gnomAD v3: 16-16149730-AT-A
• gnomAD v4: 16-16149730-AT-A
• MyVariant Identifiers: chr16:g.16243588del (hg19) ; chr16:g.16149731del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149732del , CM000678.2:g.16149732del	GRCh38
NC_000016.9:g.16243589del , CM000678.1:g.16243589del	GRCh37
NC_000016.8:g.16151090del	NCBI36
NG_007558.2:g.78741del
NG_007558.3:g.78887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1086del	ENSP00000483331.2:n.*1086del
ENST00000205557.12:c.*402del MANE Select	ENSP00000205557.7:n.*402del
ENST00000640696.1:c.1728del	ENSP00000492197.1:n.1728del
ENST00000205557.11:c.*402del	ENSP00000205557.7:n.*402del
ENST00000576204.5:n.1777del
ENST00000622290.4:c.*2123del	ENSP00000483331.1:n.*2123del
NM_001171.5:c.*402del	NP_001162.4:n.*402del
XM_011522479.1:c.*402del	XP_011520781.1:n.*402del
XM_011522480.1:c.*402del	XP_011520782.1:n.*402del
XM_011522481.1:c.*402del	XP_011520783.1:n.*402del
XR_933134.1:n.538+5442del
NM_001351800.1:c.*402del	NP_001338729.1:n.*402del
NR_147784.1:n.4576del
XM_011522479.2:c.*402del	XP_011520781.1:n.*402del
XM_011522481.3:c.*402del	XP_011520783.1:n.*402del
XM_017023212.1:c.*402del	XP_016878701.1:n.*402del
XM_024450261.1:c.*402del	XP_024306029.1:n.*402del
NM_001171.6:c.*402del MANE Select	NP_001162.5:n.*402del