Canonical Allele Identifier: CA2255117004
Gene: BLMH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249000_30249001delinsAG , CM000679.2:g.30249000_30249001delinsAG GRCh38
NC_000017.10:g.28576018_28576019delinsAG , CM000679.1:g.28576018_28576019delinsAG GRCh37
NC_000017.9:g.25600144_25600145delinsAG NCBI36
NG_011440.1:g.48056_48057delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*16_*17delinsCT MANE Select ENSP00000261714.6:n.*16_*17delinsCT
ENST00000261714.10:c.*16_*17delinsCT ENSP00000261714.6:n.*16_*17delinsCT
ENST00000578090.5:c.*1058_*1059delinsCT ENSP00000462353.1:n.*1058_*1059delinsCT
ENST00000578795.1:n.1283_1284delinsCT
NM_000386.3:c.*16_*17delinsCT NP_000377.1:n.*16_*17delinsCT
XR_934653.1:n.701-787_701-786delinsAG
XR_934655.1:n.701-3074_701-3073delinsAG
NM_000386.4:c.*16_*17delinsCT MANE Select NP_000377.1:n.*16_*17delinsCT
Search 100 bp 5'
Search 100 bp 3'