Canonical Allele Identifier: CA278645352
Gene: ABCC6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16178891del , CM000678.2:g.16178891del GRCh38
NC_000016.9:g.16272748del , CM000678.1:g.16272748del GRCh37
NC_000016.8:g.16180249del NCBI36
NG_007558.2:g.49582del
NG_007558.3:g.49728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2323del ENSP00000483331.2:p.Leu775CysfsTer?
ENST00000205557.12:c.2323del MANE Select ENSP00000205557.7:p.Leu775CysfsTer?
ENST00000205557.11:c.2323del ENSP00000205557.7:p.Leu775CysfsTer?
ENST00000456970.6:c.2323del ENSP00000405002.2:p.Leu775CysfsTer?
ENST00000622290.4:c.2323del ENSP00000483331.1:p.Leu775CysfsTer?
NM_001171.5:c.2323del NP_001162.4:p.Leu775CysfsTer?
XM_011522479.1:c.2323del XP_011520781.1:p.Leu775CysfsTer25
XM_011522480.1:c.1981del XP_011520782.1:p.Leu661CysfsTer?
XM_011522481.1:c.1981del XP_011520783.1:p.Leu661CysfsTer?
XM_011522482.1:c.2323del XP_011520784.1:p.Leu775CysfsTer?
XR_932836.1:n.2558del
XR_932837.1:n.2559del
XR_932838.1:n.2559del
NM_001351800.1:c.1981del NP_001338729.1:p.Leu661CysfsTer?
NR_147784.1:n.2360del
XM_011522479.2:c.2323del XP_011520781.1:p.Leu775CysfsTer25
XM_011522481.3:c.1981del XP_011520783.1:p.Leu661CysfsTer?
XM_011522482.3:c.2323del XP_011520784.1:p.Leu775CysfsTer?
XM_017023212.1:c.2248-1264del XP_016878701.1:n.2248-1264del
XM_017023214.1:c.2323del XP_016878703.1:p.Leu775CysfsTer?
XM_024450261.1:c.2359del XP_024306029.1:p.Leu787CysfsTer?
XR_932836.2:n.2504del
XR_932837.3:n.2504del
XR_932838.3:n.2504del
NM_001171.6:c.2323del MANE Select NP_001162.5:p.Leu775CysfsTer?
Search 100 bp 5'
Search 100 bp 3'