Canonical Allele Identifier: CA2806038346
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16198188_16198195del , CM000678.2:g.16198188_16198195del GRCh38
NC_000016.9:g.16292045_16292052del , CM000678.1:g.16292045_16292052del GRCh37
NC_000016.8:g.16199546_16199553del NCBI36
NG_007558.2:g.30280_30287del
NG_007558.3:g.30426_30433del

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1177-10_1177-3del ENSP00000507301.1:n.1177-10_1177-3del
ENST00000622290.5:c.1177-10_1177-3del ENSP00000483331.2:n.1177-10_1177-3del
ENST00000205557.12:c.1177-10_1177-3del MANE Select ENSP00000205557.7:n.1177-10_1177-3del
ENST00000205557.11:c.1177-10_1177-3del ENSP00000205557.7:n.1177-10_1177-3del
ENST00000456970.6:c.1177-10_1177-3del ENSP00000405002.2:n.1177-10_1177-3del
ENST00000574094.5:n.1273-10_1273-3del
ENST00000622290.4:c.1177-10_1177-3del ENSP00000483331.1:n.1177-10_1177-3del
NM_001171.5:c.1177-10_1177-3del NP_001162.4:n.1177-10_1177-3del
XM_011522479.1:c.1177-10_1177-3del XP_011520781.1:n.1177-10_1177-3del
XM_011522480.1:c.835-10_835-3del XP_011520782.1:n.835-10_835-3del
XM_011522481.1:c.835-10_835-3del XP_011520783.1:n.835-10_835-3del
XM_011522482.1:c.1177-10_1177-3del XP_011520784.1:n.1177-10_1177-3del
XR_932836.1:n.1412-10_1412-3del
XR_932837.1:n.1413-10_1413-3del
XR_932838.1:n.1413-10_1413-3del
NM_001351800.1:c.835-10_835-3del NP_001338729.1:n.835-10_835-3del
NR_147784.1:n.1214-10_1214-3del
XM_011522479.2:c.1177-10_1177-3del XP_011520781.1:n.1177-10_1177-3del
XM_011522481.3:c.835-10_835-3del XP_011520783.1:n.835-10_835-3del
XM_011522482.3:c.1177-10_1177-3del XP_011520784.1:n.1177-10_1177-3del
XM_017023212.1:c.1177-10_1177-3del XP_016878701.1:n.1177-10_1177-3del
XM_017023214.1:c.1177-10_1177-3del XP_016878703.1:n.1177-10_1177-3del
XM_024450261.1:c.1213-10_1213-3del XP_024306029.1:n.1213-10_1213-3del
XR_932836.2:n.1358-10_1358-3del
XR_932837.3:n.1358-10_1358-3del
XR_932838.3:n.1358-10_1358-3del
NM_001171.6:c.1177-10_1177-3del MANE Select NP_001162.5:n.1177-10_1177-3del