Canonical Allele Identifier: CA645372594

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433424
• ClinVar RCV Id: RCV000499198
• MyVariant Identifiers: chr16:g.16288729_16295943del (hg19) ; chr16:g.16194872_16202086del (hg38)
• PubMed: PMID:17823974

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16194872_16202086del , CM000678.2:g.16194872_16202086del	GRCh38
NC_000016.9:g.16288729_16295943del , CM000678.1:g.16288729_16295943del	GRCh37
NC_000016.8:g.16196230_16203444del	NCBI36
NG_007558.2:g.26387_33601del
NG_007558.3:g.26533_33747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1092_1339-56del
ENST00000622290.5:c.1092_1339-1949del
ENST00000205557.12:c.1092_1339-1949del
ENST00000205557.11:c.1092_1339-1949del
ENST00000456970.6:c.1092_1339-1949del
ENST00000574094.5:n.1188_1435-1949del
ENST00000622290.4:c.1092_1339-1949del
NM_001171.5:c.1092_1339-1949del
XM_011522479.1:c.1092_1339-1949del
XM_011522480.1:c.750_997-1949del
XM_011522481.1:c.750_997-1949del
XM_011522482.1:c.1092_1339-1949del
XR_932836.1:n.1327_1574-1949del
XR_932837.1:n.1328_1575-1949del
XR_932838.1:n.1328_1575-1949del
NM_001351800.1:c.750_997-1949del
NR_147784.1:n.1129_1376-1949del
XM_011522479.2:c.1092_1339-1949del
XM_011522481.3:c.750_997-1949del
XM_011522482.3:c.1092_1339-1949del
XM_017023212.1:c.1092_1339-1949del
XM_017023214.1:c.1092_1339-1949del
XM_024450261.1:c.1128_1375-1949del
XR_932836.2:n.1273_1520-1949del
XR_932837.3:n.1273_1520-1949del
XR_932838.3:n.1273_1520-1949del
NM_001171.6:c.1092_1339-1949del