Canonical Allele Identifier: CA2806037476

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150901_16150902insACA , CM000678.2:g.16150901_16150902insACA	GRCh38
NC_000016.9:g.16244758_16244759insACA , CM000678.1:g.16244758_16244759insACA	GRCh37
NC_000016.8:g.16152259_16152260insACA	NCBI36
NG_007558.2:g.77570_77571insTGT
NG_007558.3:g.77716_77717insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381-130_*381-129insTGT	ENSP00000483331.2:n.*381-130_*381-129insTGT
ENST00000205557.12:c.4209-130_4209-129insTGT MANE Select	ENSP00000205557.7:n.4209-130_4209-129insTGT
ENST00000640696.1:c.1023-130_1023-129insTGT	ENSP00000492197.1:n.1023-130_1023-129insTGT
ENST00000205557.11:c.4209-130_4209-129insTGT	ENSP00000205557.7:n.4209-130_4209-129insTGT
ENST00000456970.6:c.3834-130_3834-129insTGT	ENSP00000405002.2:n.3834-130_3834-129insTGT
ENST00000576204.5:n.1072-130_1072-129insTGT
ENST00000622290.4:c.*1418-130_*1418-129insTGT	ENSP00000483331.1:n.*1418-130_*1418-129insTGT
NM_001171.5:c.4209-130_4209-129insTGT	NP_001162.4:n.4209-130_4209-129insTGT
XM_011522479.1:c.4176-130_4176-129insTGT	XP_011520781.1:n.4176-130_4176-129insTGT
XM_011522480.1:c.3867-130_3867-129insTGT	XP_011520782.1:n.3867-130_3867-129insTGT
XM_011522481.1:c.3867-130_3867-129insTGT	XP_011520783.1:n.3867-130_3867-129insTGT
XR_933134.1:n.538+6611_538+6612insACA
NM_001351800.1:c.3867-130_3867-129insTGT	NP_001338729.1:n.3867-130_3867-129insTGT
NR_147784.1:n.3871-130_3871-129insTGT
XM_011522479.2:c.4176-130_4176-129insTGT	XP_011520781.1:n.4176-130_4176-129insTGT
XM_011522481.3:c.3867-130_3867-129insTGT	XP_011520783.1:n.3867-130_3867-129insTGT
XM_017023212.1:c.4041-130_4041-129insTGT	XP_016878701.1:n.4041-130_4041-129insTGT
XM_024450261.1:c.4245-130_4245-129insTGT	XP_024306029.1:n.4245-130_4245-129insTGT
NM_001171.6:c.4209-130_4209-129insTGT MANE Select	NP_001162.5:n.4209-130_4209-129insTGT