Canonical Allele Identifier: CA10615252
Community Standard Title: NM_000055.4(BCHE):c.*293dup
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165773093dup , CM000665.2:g.165773093dup GRCh38
NC_000003.11:g.165490881dup , CM000665.1:g.165490881dup GRCh37
NC_000003.10:g.166973575dup NCBI36
NG_009031.1:g.69377dup

Transcript Alleles

HGVS Amino-acid Change
NM_000055.4:c.*293dup MANE Select NP_000046.1:n.*293dup
ENST00000264381.8:c.*293dup MANE Select ENSP00000264381.3:n.*293dup
NM_000055.2:c.*293dup NP_000046.1:n.*293dup
NM_000055.3:c.*293dup NP_000046.1:n.*293dup
NR_137635.1:n.744dup
NR_137635.2:n.695dup
NR_137636.1:n.2348dup
NR_137636.2:n.2299dup
ENST00000264381.7:c.*293dup ENSP00000264381.3:n.*293dup
ENST00000479451.5:c.692dup ENSP00000418325.1:n.692dup
ENST00000482958.1:c.*608dup ENSP00000419804.1:n.*608dup
ENST00000497011.5:c.*492dup ENSP00000419505.1:n.*492dup
XM_005247685.1:c.*293dup XP_005247742.1:n.*293dup