Canonical Allele Identifier: CA727906376

Gene: BLMH

Linked Data

• dbSNP Id: rs1390128787
• MyVariant Identifiers: chr17:g.28575923_28575924del (hg19) ; chr17:g.30248905_30248906del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30248908_30248909del , CM000679.2:g.30248908_30248909del	GRCh38
NC_000017.10:g.28575926_28575927del , CM000679.1:g.28575926_28575927del	GRCh37
NC_000017.9:g.25600052_25600053del	NCBI36
NG_011440.1:g.48151_48152del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261714.11:c.*111_*112del MANE Select	ENSP00000261714.6:n.*111_*112del
ENST00000261714.10:c.*111_*112del	ENSP00000261714.6:n.*111_*112del
ENST00000578090.5:c.*1153_*1154del	ENSP00000462353.1:n.*1153_*1154del
ENST00000578795.1:n.1378_1379del
NM_000386.3:c.*111_*112del	NP_000377.1:n.*111_*112del
XR_934653.1:n.701-879_701-878del
XR_934655.1:n.701-3166_701-3165del
NM_000386.4:c.*111_*112del MANE Select	NP_000377.1:n.*111_*112del