Canonical Allele Identifier: CA278674831

Gene: ABCC6

Linked Data

• dbSNP Id: rs983883301
• gnomAD v4: 16-16149792-CAG-C
• MyVariant Identifiers: chr16:g.16243650_16243651del (hg19) ; chr16:g.16149793_16149794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149796_16149797del , CM000678.2:g.16149796_16149797del	GRCh38
NC_000016.9:g.16243653_16243654del , CM000678.1:g.16243653_16243654del	GRCh37
NC_000016.8:g.16151154_16151155del	NCBI36
NG_007558.2:g.78678_78679del
NG_007558.3:g.78824_78825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1023_*1024del	ENSP00000483331.2:n.*1023_*1024del
ENST00000205557.12:c.*339_*340del MANE Select	ENSP00000205557.7:n.*339_*340del
ENST00000640696.1:c.1665_1666del	ENSP00000492197.1:n.1665_1666del
ENST00000205557.11:c.*339_*340del	ENSP00000205557.7:n.*339_*340del
ENST00000576204.5:n.1714_1715del
ENST00000622290.4:c.*2060_*2061del	ENSP00000483331.1:n.*2060_*2061del
NM_001171.5:c.*339_*340del	NP_001162.4:n.*339_*340del
XM_011522479.1:c.*339_*340del	XP_011520781.1:n.*339_*340del
XM_011522480.1:c.*339_*340del	XP_011520782.1:n.*339_*340del
XM_011522481.1:c.*339_*340del	XP_011520783.1:n.*339_*340del
XR_933134.1:n.538+5506_538+5507del
NM_001351800.1:c.*339_*340del	NP_001338729.1:n.*339_*340del
NR_147784.1:n.4513_4514del
XM_011522479.2:c.*339_*340del	XP_011520781.1:n.*339_*340del
XM_011522481.3:c.*339_*340del	XP_011520783.1:n.*339_*340del
XM_017023212.1:c.*339_*340del	XP_016878701.1:n.*339_*340del
XM_024450261.1:c.*339_*340del	XP_024306029.1:n.*339_*340del
NM_001171.6:c.*339_*340del MANE Select	NP_001162.5:n.*339_*340del