Canonical Allele Identifier: CA2575925036
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16198267_16198273del , CM000678.2:g.16198267_16198273del GRCh38
NC_000016.9:g.16292124_16292130del , CM000678.1:g.16292124_16292130del GRCh37
NC_000016.8:g.16199625_16199631del NCBI36
NG_007558.2:g.30200_30206del
NG_007558.3:g.30346_30352del

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1177-90_1177-84del ENSP00000507301.1:n.1177-90_1177-84del
ENST00000622290.5:c.1177-90_1177-84del ENSP00000483331.2:n.1177-90_1177-84del
ENST00000205557.12:c.1177-90_1177-84del MANE Select ENSP00000205557.7:n.1177-90_1177-84del
ENST00000205557.11:c.1177-90_1177-84del ENSP00000205557.7:n.1177-90_1177-84del
ENST00000456970.6:c.1177-90_1177-84del ENSP00000405002.2:n.1177-90_1177-84del
ENST00000574094.5:n.1273-90_1273-84del
ENST00000622290.4:c.1177-90_1177-84del ENSP00000483331.1:n.1177-90_1177-84del
NM_001171.5:c.1177-90_1177-84del NP_001162.4:n.1177-90_1177-84del
XM_011522479.1:c.1177-90_1177-84del XP_011520781.1:n.1177-90_1177-84del
XM_011522480.1:c.835-90_835-84del XP_011520782.1:n.835-90_835-84del
XM_011522481.1:c.835-90_835-84del XP_011520783.1:n.835-90_835-84del
XM_011522482.1:c.1177-90_1177-84del XP_011520784.1:n.1177-90_1177-84del
XR_932836.1:n.1412-90_1412-84del
XR_932837.1:n.1413-90_1413-84del
XR_932838.1:n.1413-90_1413-84del
NM_001351800.1:c.835-90_835-84del NP_001338729.1:n.835-90_835-84del
NR_147784.1:n.1214-90_1214-84del
XM_011522479.2:c.1177-90_1177-84del XP_011520781.1:n.1177-90_1177-84del
XM_011522481.3:c.835-90_835-84del XP_011520783.1:n.835-90_835-84del
XM_011522482.3:c.1177-90_1177-84del XP_011520784.1:n.1177-90_1177-84del
XM_017023212.1:c.1177-90_1177-84del XP_016878701.1:n.1177-90_1177-84del
XM_017023214.1:c.1177-90_1177-84del XP_016878703.1:n.1177-90_1177-84del
XM_024450261.1:c.1213-90_1213-84del XP_024306029.1:n.1213-90_1213-84del
XR_932836.2:n.1358-90_1358-84del
XR_932837.3:n.1358-90_1358-84del
XR_932838.3:n.1358-90_1358-84del
NM_001171.6:c.1177-90_1177-84del MANE Select NP_001162.5:n.1177-90_1177-84del