Canonical Allele Identifier: CA2806037480
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150908_16150910del , CM000678.2:g.16150908_16150910del GRCh38
NC_000016.9:g.16244765_16244767del , CM000678.1:g.16244765_16244767del GRCh37
NC_000016.8:g.16152266_16152268del NCBI36
NG_007558.2:g.77562_77564del
NG_007558.3:g.77708_77710del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-138_*381-136del ENSP00000483331.2:n.*381-138_*381-136del
ENST00000205557.12:c.4209-138_4209-136del MANE Select ENSP00000205557.7:n.4209-138_4209-136del
ENST00000640696.1:c.1023-138_1023-136del ENSP00000492197.1:n.1023-138_1023-136del
ENST00000205557.11:c.4209-138_4209-136del ENSP00000205557.7:n.4209-138_4209-136del
ENST00000456970.6:c.3834-138_3834-136del ENSP00000405002.2:n.3834-138_3834-136del
ENST00000576204.5:n.1072-138_1072-136del
ENST00000622290.4:c.*1418-138_*1418-136del ENSP00000483331.1:n.*1418-138_*1418-136del
NM_001171.5:c.4209-138_4209-136del NP_001162.4:n.4209-138_4209-136del
XM_011522479.1:c.4176-138_4176-136del XP_011520781.1:n.4176-138_4176-136del
XM_011522480.1:c.3867-138_3867-136del XP_011520782.1:n.3867-138_3867-136del
XM_011522481.1:c.3867-138_3867-136del XP_011520783.1:n.3867-138_3867-136del
XR_933134.1:n.538+6618_538+6620del
NM_001351800.1:c.3867-138_3867-136del NP_001338729.1:n.3867-138_3867-136del
NR_147784.1:n.3871-138_3871-136del
XM_011522479.2:c.4176-138_4176-136del XP_011520781.1:n.4176-138_4176-136del
XM_011522481.3:c.3867-138_3867-136del XP_011520783.1:n.3867-138_3867-136del
XM_017023212.1:c.4041-138_4041-136del XP_016878701.1:n.4041-138_4041-136del
XM_024450261.1:c.4245-138_4245-136del XP_024306029.1:n.4245-138_4245-136del
NM_001171.6:c.4209-138_4209-136del MANE Select NP_001162.5:n.4209-138_4209-136del