Canonical Allele Identifier: CA2841567649
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16161445dup , CM000678.2:g.16161445dup GRCh38
NC_000016.9:g.16255302dup , CM000678.1:g.16255302dup GRCh37
NC_000016.8:g.16162803dup NCBI36
NG_007558.2:g.67029dup
NG_007558.3:g.67175dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3628dup ENSP00000483331.2:p.Leu1210ProfsTer?
ENST00000205557.12:c.3628dup MANE Select ENSP00000205557.7:p.Leu1210ProfsTer?
ENST00000640696.1:c.442dup ENSP00000492197.1:p.Leu148ProfsTer?
ENST00000205557.11:c.3628dup ENSP00000205557.7:p.Leu1210ProfsTer?
ENST00000456970.6:c.3253dup ENSP00000405002.2:n.3253dup
ENST00000622290.4:c.*837dup ENSP00000483331.1:n.*837dup
NM_001171.5:c.3628dup NP_001162.4:p.Leu1210ProfsTer?
XM_011522479.1:c.3595dup XP_011520781.1:p.Leu1199ProfsTer?
XM_011522480.1:c.3286dup XP_011520782.1:p.Leu1096ProfsTer?
XM_011522481.1:c.3286dup XP_011520783.1:p.Leu1096ProfsTer?
XR_932836.1:n.3863dup
XR_932837.1:n.3664dup
XR_932838.1:n.3664dup
XR_933133.1:n.260-1251dup
XR_933134.1:n.607-1251dup
NM_001351800.1:c.3286dup NP_001338729.1:p.Leu1096ProfsTer?
NR_147784.1:n.3290dup
XM_011522479.2:c.3595dup XP_011520781.1:p.Leu1199ProfsTer?
XM_011522481.3:c.3286dup XP_011520783.1:p.Leu1096ProfsTer?
XM_017023212.1:c.3460dup XP_016878701.1:p.Leu1154ProfsTer?
XM_017023214.1:c.3428dup XP_016878703.1:p.Pro1144SerfsTer?
XM_024450261.1:c.3664dup XP_024306029.1:p.Leu1222ProfsTer?
XR_932836.2:n.3809dup
XR_932837.3:n.3609dup
XR_932838.3:n.3609dup
NM_001171.6:c.3628dup MANE Select NP_001162.5:p.Leu1210ProfsTer?