Canonical Allele Identifier: CA129126
Gene: ABCC6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16219578dup , CM000678.2:g.16219578dup GRCh38
NC_000016.9:g.16313435dup , CM000678.1:g.16313435dup GRCh37
NC_000016.8:g.16220936dup NCBI36
NG_007558.2:g.8894dup
NG_007558.3:g.9040dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.450dup ENSP00000507301.1:p.Ala151ArgfsTer?
ENST00000622290.5:c.450dup ENSP00000483331.2:p.Ala151ArgfsTer?
ENST00000205557.12:c.450dup MANE Select ENSP00000205557.7:p.Ala151ArgfsTer?
ENST00000205557.11:c.450dup ENSP00000205557.7:p.Ala151ArgfsTer?
ENST00000456970.6:c.450dup ENSP00000405002.2:p.Ala151ArgfsTer?
ENST00000574094.5:n.546dup
ENST00000577103.1:c.*317dup ENSP00000459243.1:n.*317dup
ENST00000622290.4:c.450dup ENSP00000483331.1:p.Ala151ArgfsTer?
NM_001171.5:c.450dup NP_001162.4:p.Ala151ArgfsTer?
XM_011522479.1:c.450dup XP_011520781.1:p.Ala151ArgfsTer?
XM_011522480.1:c.108dup XP_011520782.1:p.Ala37ArgfsTer?
XM_011522481.1:c.108dup XP_011520783.1:p.Ala37ArgfsTer?
XM_011522482.1:c.450dup XP_011520784.1:p.Ala151ArgfsTer?
XR_932836.1:n.685dup
XR_932837.1:n.686dup
XR_932838.1:n.686dup
NM_001351800.1:c.108dup NP_001338729.1:p.Ala37ArgfsTer?
NR_147784.1:n.487dup
XM_011522479.2:c.450dup XP_011520781.1:p.Ala151ArgfsTer?
XM_011522481.3:c.108dup XP_011520783.1:p.Ala37ArgfsTer?
XM_011522482.3:c.450dup XP_011520784.1:p.Ala151ArgfsTer?
XM_017023212.1:c.450dup XP_016878701.1:p.Ala151ArgfsTer?
XM_017023214.1:c.450dup XP_016878703.1:p.Ala151ArgfsTer?
XM_024450261.1:c.486dup XP_024306029.1:p.Ala163ArgfsTer?
XR_932836.2:n.631dup
XR_932837.3:n.631dup
XR_932838.3:n.631dup
NM_001171.6:c.450dup MANE Select NP_001162.5:p.Ala151ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'