Canonical Allele Identifier: CA2255117005

Gene: BLMH

Linked Data

• dbSNP Id: rs1907602571

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30249001del , CM000679.2:g.30249001del	GRCh38
NC_000017.10:g.28576019del , CM000679.1:g.28576019del	GRCh37
NC_000017.9:g.25600145del	NCBI36
NG_011440.1:g.48056del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261714.11:c.*16del MANE Select	ENSP00000261714.6:n.*16del
ENST00000261714.10:c.*16del	ENSP00000261714.6:n.*16del
ENST00000578090.5:c.*1058del	ENSP00000462353.1:n.*1058del
ENST00000578795.1:n.1283del
NM_000386.3:c.*16del	NP_000377.1:n.*16del
XR_934653.1:n.701-786del
XR_934655.1:n.701-3073del
NM_000386.4:c.*16del MANE Select	NP_000377.1:n.*16del