Canonical Allele Identifier: CA2255117013

Gene: BLMH

Linked Data

• dbSNP Id: rs1907603240

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30249011del , CM000679.2:g.30249011del	GRCh38
NC_000017.10:g.28576029del , CM000679.1:g.28576029del	GRCh37
NC_000017.9:g.25600155del	NCBI36
NG_011440.1:g.48048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261714.11:c.*8del MANE Select	ENSP00000261714.6:n.*8del
ENST00000261714.10:c.*8del	ENSP00000261714.6:n.*8del
ENST00000578090.5:c.*1050del	ENSP00000462353.1:n.*1050del
ENST00000578795.1:n.1275del
NM_000386.3:c.*8del	NP_000377.1:n.*8del
XR_934653.1:n.701-776del
XR_934655.1:n.701-3063del
NM_000386.4:c.*8del MANE Select	NP_000377.1:n.*8del