Canonical Allele Identifier: CA2806038725
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16203328_16203330del , CM000678.2:g.16203328_16203330del GRCh38
NC_000016.9:g.16297185_16297187del , CM000678.1:g.16297185_16297187del GRCh37
NC_000016.8:g.16204686_16204688del NCBI36
NG_007558.2:g.25144_25146del
NG_007558.3:g.25290_25292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.998+82_998+84del ENSP00000507301.1:n.998+82_998+84del
ENST00000622290.5:c.998+82_998+84del ENSP00000483331.2:n.998+82_998+84del
ENST00000205557.12:c.998+82_998+84del MANE Select ENSP00000205557.7:n.998+82_998+84del
ENST00000205557.11:c.998+82_998+84del ENSP00000205557.7:n.998+82_998+84del
ENST00000456970.6:c.998+82_998+84del ENSP00000405002.2:n.998+82_998+84del
ENST00000574094.5:n.1094+82_1094+84del
ENST00000577103.1:c.*865+82_*865+84del ENSP00000459243.1:n.*865+82_*865+84del
ENST00000622290.4:c.998+82_998+84del ENSP00000483331.1:n.998+82_998+84del
NM_001171.5:c.998+82_998+84del NP_001162.4:n.998+82_998+84del
XM_011522479.1:c.998+82_998+84del XP_011520781.1:n.998+82_998+84del
XM_011522480.1:c.656+82_656+84del XP_011520782.1:n.656+82_656+84del
XM_011522481.1:c.656+82_656+84del XP_011520783.1:n.656+82_656+84del
XM_011522482.1:c.998+82_998+84del XP_011520784.1:n.998+82_998+84del
XR_932836.1:n.1233+82_1233+84del
XR_932837.1:n.1234+82_1234+84del
XR_932838.1:n.1234+82_1234+84del
NM_001351800.1:c.656+82_656+84del NP_001338729.1:n.656+82_656+84del
NR_147784.1:n.1035+82_1035+84del
XM_011522479.2:c.998+82_998+84del XP_011520781.1:n.998+82_998+84del
XM_011522481.3:c.656+82_656+84del XP_011520783.1:n.656+82_656+84del
XM_011522482.3:c.998+82_998+84del XP_011520784.1:n.998+82_998+84del
XM_017023212.1:c.998+82_998+84del XP_016878701.1:n.998+82_998+84del
XM_017023214.1:c.998+82_998+84del XP_016878703.1:n.998+82_998+84del
XM_024450261.1:c.1034+82_1034+84del XP_024306029.1:n.1034+82_1034+84del
XR_932836.2:n.1179+82_1179+84del
XR_932837.3:n.1179+82_1179+84del
XR_932838.3:n.1179+82_1179+84del
NM_001171.6:c.998+82_998+84del MANE Select NP_001162.5:n.998+82_998+84del