Canonical Allele Identifier: CA278675030
Gene: ABCC6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150211del , CM000678.2:g.16150211del GRCh38
NC_000016.9:g.16244068del , CM000678.1:g.16244068del GRCh37
NC_000016.8:g.16151569del NCBI36
NG_007558.2:g.78261del
NG_007558.3:g.78407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*606del ENSP00000483331.2:n.*606del
ENST00000205557.12:c.4434del MANE Select ENSP00000205557.7:p.Glu1479ArgfsTer?
ENST00000640696.1:c.1248del ENSP00000492197.1:p.Glu417ArgfsTer?
ENST00000205557.11:c.4434del ENSP00000205557.7:p.Glu1479ArgfsTer?
ENST00000456970.6:c.4059del ENSP00000405002.2:n.4059del
ENST00000576204.5:n.1297del
ENST00000622290.4:c.*1643del ENSP00000483331.1:n.*1643del
NM_001171.5:c.4434del NP_001162.4:p.Glu1479ArgfsTer?
XM_011522479.1:c.4401del XP_011520781.1:p.Glu1468ArgfsTer?
XM_011522480.1:c.4092del XP_011520782.1:p.Glu1365ArgfsTer?
XM_011522481.1:c.4092del XP_011520783.1:p.Glu1365ArgfsTer?
XR_933134.1:n.538+5921del
NM_001351800.1:c.4092del NP_001338729.1:p.Glu1365ArgfsTer?
NR_147784.1:n.4096del
XM_011522479.2:c.4401del XP_011520781.1:p.Glu1468ArgfsTer?
XM_011522481.3:c.4092del XP_011520783.1:p.Glu1365ArgfsTer?
XM_017023212.1:c.4266del XP_016878701.1:p.Glu1423ArgfsTer?
XM_024450261.1:c.4470del XP_024306029.1:p.Glu1491ArgfsTer?
NM_001171.6:c.4434del MANE Select NP_001162.5:p.Glu1479ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'