Canonical Allele Identifier: CA2210133365
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16149746_16149748delinsAGT , CM000678.2:g.16149746_16149748delinsAGT GRCh38
NC_000016.9:g.16243603_16243605delinsAGT , CM000678.1:g.16243603_16243605delinsAGT GRCh37
NC_000016.8:g.16151104_16151106delinsAGT NCBI36
NG_007558.2:g.78724_78726delinsACT
NG_007558.3:g.78870_78872delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*1069_*1071delinsACT ENSP00000483331.2:n.*1069_*1071delinsACT
ENST00000205557.12:c.*385_*387delinsACT MANE Select ENSP00000205557.7:n.*385_*387delinsACT
ENST00000640696.1:c.1711_1713delinsACT ENSP00000492197.1:n.1711_1713delinsACT
ENST00000205557.11:c.*385_*387delinsACT ENSP00000205557.7:n.*385_*387delinsACT
ENST00000576204.5:n.1760_1762delinsACT
ENST00000622290.4:c.*2106_*2108delinsACT ENSP00000483331.1:n.*2106_*2108delinsACT
NM_001171.5:c.*385_*387delinsACT NP_001162.4:n.*385_*387delinsACT
XM_011522479.1:c.*385_*387delinsACT XP_011520781.1:n.*385_*387delinsACT
XM_011522480.1:c.*385_*387delinsACT XP_011520782.1:n.*385_*387delinsACT
XM_011522481.1:c.*385_*387delinsACT XP_011520783.1:n.*385_*387delinsACT
XR_933134.1:n.538+5456_538+5458delinsAGT
NM_001351800.1:c.*385_*387delinsACT NP_001338729.1:n.*385_*387delinsACT
NR_147784.1:n.4559_4561delinsACT
XM_011522479.2:c.*385_*387delinsACT XP_011520781.1:n.*385_*387delinsACT
XM_011522481.3:c.*385_*387delinsACT XP_011520783.1:n.*385_*387delinsACT
XM_017023212.1:c.*385_*387delinsACT XP_016878701.1:n.*385_*387delinsACT
XM_024450261.1:c.*385_*387delinsACT XP_024306029.1:n.*385_*387delinsACT
NM_001171.6:c.*385_*387delinsACT MANE Select NP_001162.5:n.*385_*387delinsACT