Canonical Allele Identifier: CA2573151863

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1501382
• ClinVar RCV Id: RCV002017420
• dbSNP Id: rs2152278176

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198014_16198015delinsCA , CM000678.2:g.16198014_16198015delinsCA	GRCh38
NC_000016.9:g.16291871_16291872delinsCA , CM000678.1:g.16291871_16291872delinsCA	GRCh37
NC_000016.8:g.16199372_16199373delinsCA	NCBI36
NG_007558.2:g.30457_30458delinsTG
NG_007558.3:g.30603_30604delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1338+6_1338+7delinsTG	ENSP00000507301.1:n.1338+6_1338+7delinsTG
ENST00000622290.5:c.1338+6_1338+7delinsTG	ENSP00000483331.2:n.1338+6_1338+7delinsTG
ENST00000205557.12:c.1338+6_1338+7delinsTG MANE Select	ENSP00000205557.7:n.1338+6_1338+7delinsTG
ENST00000205557.11:c.1338+6_1338+7delinsTG	ENSP00000205557.7:n.1338+6_1338+7delinsTG
ENST00000456970.6:c.1338+6_1338+7delinsTG	ENSP00000405002.2:n.1338+6_1338+7delinsTG
ENST00000574094.5:n.1434+6_1434+7delinsTG
ENST00000622290.4:c.1338+6_1338+7delinsTG	ENSP00000483331.1:n.1338+6_1338+7delinsTG
NM_001171.5:c.1338+6_1338+7delinsTG	NP_001162.4:n.1338+6_1338+7delinsTG
XM_011522479.1:c.1338+6_1338+7delinsTG	XP_011520781.1:n.1338+6_1338+7delinsTG
XM_011522480.1:c.996+6_996+7delinsTG	XP_011520782.1:n.996+6_996+7delinsTG
XM_011522481.1:c.996+6_996+7delinsTG	XP_011520783.1:n.996+6_996+7delinsTG
XM_011522482.1:c.1338+6_1338+7delinsTG	XP_011520784.1:n.1338+6_1338+7delinsTG
XR_932836.1:n.1573+6_1573+7delinsTG
XR_932837.1:n.1574+6_1574+7delinsTG
XR_932838.1:n.1574+6_1574+7delinsTG
NM_001351800.1:c.996+6_996+7delinsTG	NP_001338729.1:n.996+6_996+7delinsTG
NR_147784.1:n.1375+6_1375+7delinsTG
XM_011522479.2:c.1338+6_1338+7delinsTG	XP_011520781.1:n.1338+6_1338+7delinsTG
XM_011522481.3:c.996+6_996+7delinsTG	XP_011520783.1:n.996+6_996+7delinsTG
XM_011522482.3:c.1338+6_1338+7delinsTG	XP_011520784.1:n.1338+6_1338+7delinsTG
XM_017023212.1:c.1338+6_1338+7delinsTG	XP_016878701.1:n.1338+6_1338+7delinsTG
XM_017023214.1:c.1338+6_1338+7delinsTG	XP_016878703.1:n.1338+6_1338+7delinsTG
XM_024450261.1:c.1374+6_1374+7delinsTG	XP_024306029.1:n.1374+6_1374+7delinsTG
XR_932836.2:n.1519+6_1519+7delinsTG
XR_932837.3:n.1519+6_1519+7delinsTG
XR_932838.3:n.1519+6_1519+7delinsTG
NM_001171.6:c.1338+6_1338+7delinsTG MANE Select	NP_001162.5:n.1338+6_1338+7delinsTG