Canonical Allele Identifier: CA2806037373
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150519_16150524del , CM000678.2:g.16150519_16150524del GRCh38
NC_000016.9:g.16244376_16244381del , CM000678.1:g.16244376_16244381del GRCh37
NC_000016.8:g.16151877_16151882del NCBI36
NG_007558.2:g.77954_77959del
NG_007558.3:g.78100_78105del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*575+60_*575+65del ENSP00000483331.2:n.*575+60_*575+65del
ENST00000205557.12:c.4403+60_4403+65del MANE Select ENSP00000205557.7:n.4403+60_4403+65del
ENST00000640696.1:c.1217+60_1217+65del ENSP00000492197.1:n.1217+60_1217+65del
ENST00000205557.11:c.4403+60_4403+65del ENSP00000205557.7:n.4403+60_4403+65del
ENST00000456970.6:c.4028+60_4028+65del ENSP00000405002.2:n.4028+60_4028+65del
ENST00000576204.5:n.1266+60_1266+65del
ENST00000622290.4:c.*1612+60_*1612+65del ENSP00000483331.1:n.*1612+60_*1612+65del
NM_001171.5:c.4403+60_4403+65del NP_001162.4:n.4403+60_4403+65del
XM_011522479.1:c.4370+60_4370+65del XP_011520781.1:n.4370+60_4370+65del
XM_011522480.1:c.4061+60_4061+65del XP_011520782.1:n.4061+60_4061+65del
XM_011522481.1:c.4061+60_4061+65del XP_011520783.1:n.4061+60_4061+65del
XR_933134.1:n.538+6229_538+6234del
NM_001351800.1:c.4061+60_4061+65del NP_001338729.1:n.4061+60_4061+65del
NR_147784.1:n.4065+60_4065+65del
XM_011522479.2:c.4370+60_4370+65del XP_011520781.1:n.4370+60_4370+65del
XM_011522481.3:c.4061+60_4061+65del XP_011520783.1:n.4061+60_4061+65del
XM_017023212.1:c.4235+60_4235+65del XP_016878701.1:n.4235+60_4235+65del
XM_024450261.1:c.4439+60_4439+65del XP_024306029.1:n.4439+60_4439+65del
NM_001171.6:c.4403+60_4403+65del MANE Select NP_001162.5:n.4403+60_4403+65del