Canonical Allele Identifier: CA2725136458
Gene:

Linked Data

dbSNP Id: rs2135332152

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166692dup , CM000673.2:g.112166692dup GRCh38
NC_000011.9:g.112037415dup , CM000673.1:g.112037415dup GRCh37
NC_000011.8:g.111542625dup NCBI36
NG_028143.1:g.2426dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3727dup
ENST00000531744.5:c.315-3727dup ENSP00000456957.1:n.315-3727dup
ENST00000532699.1:c.315-3727dup ENSP00000456434.1:n.315-3727dup