Canonical Allele Identifier: CA2806037438
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150877_16150885del , CM000678.2:g.16150877_16150885del GRCh38
NC_000016.9:g.16244734_16244742del , CM000678.1:g.16244734_16244742del GRCh37
NC_000016.8:g.16152235_16152243del NCBI36
NG_007558.2:g.77587_77595del
NG_007558.3:g.77733_77741del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-113_*381-105del ENSP00000483331.2:n.*381-113_*381-105del
ENST00000205557.12:c.4209-113_4209-105del MANE Select ENSP00000205557.7:n.4209-113_4209-105del
ENST00000640696.1:c.1023-113_1023-105del ENSP00000492197.1:n.1023-113_1023-105del
ENST00000205557.11:c.4209-113_4209-105del ENSP00000205557.7:n.4209-113_4209-105del
ENST00000456970.6:c.3834-113_3834-105del ENSP00000405002.2:n.3834-113_3834-105del
ENST00000576204.5:n.1072-113_1072-105del
ENST00000622290.4:c.*1418-113_*1418-105del ENSP00000483331.1:n.*1418-113_*1418-105del
NM_001171.5:c.4209-113_4209-105del NP_001162.4:n.4209-113_4209-105del
XM_011522479.1:c.4176-113_4176-105del XP_011520781.1:n.4176-113_4176-105del
XM_011522480.1:c.3867-113_3867-105del XP_011520782.1:n.3867-113_3867-105del
XM_011522481.1:c.3867-113_3867-105del XP_011520783.1:n.3867-113_3867-105del
XR_933134.1:n.538+6587_538+6595del
NM_001351800.1:c.3867-113_3867-105del NP_001338729.1:n.3867-113_3867-105del
NR_147784.1:n.3871-113_3871-105del
XM_011522479.2:c.4176-113_4176-105del XP_011520781.1:n.4176-113_4176-105del
XM_011522481.3:c.3867-113_3867-105del XP_011520783.1:n.3867-113_3867-105del
XM_017023212.1:c.4041-113_4041-105del XP_016878701.1:n.4041-113_4041-105del
XM_024450261.1:c.4245-113_4245-105del XP_024306029.1:n.4245-113_4245-105del
NM_001171.6:c.4209-113_4209-105del MANE Select NP_001162.5:n.4209-113_4209-105del