Canonical Allele Identifier: CA2637004709
Gene: BLMH HGNC NCBI

Linked Data

gnomAD v4: 17-30248899-TCTGA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248903_30248906del , CM000679.2:g.30248903_30248906del GRCh38
NC_000017.10:g.28575921_28575924del , CM000679.1:g.28575921_28575924del GRCh37
NC_000017.9:g.25600047_25600050del NCBI36
NG_011440.1:g.48154_48157del

Transcript Alleles

HGVS Amino-acid change
ENST00000261714.11:c.*114_*117del MANE Select ENSP00000261714.6:n.*114_*117del
ENST00000261714.10:c.*114_*117del ENSP00000261714.6:n.*114_*117del
ENST00000578090.5:c.*1156_*1159del ENSP00000462353.1:n.*1156_*1159del
ENST00000578795.1:n.1381_1384del
NM_000386.3:c.*114_*117del NP_000377.1:n.*114_*117del
XR_934653.1:n.701-884_701-881del
XR_934655.1:n.701-3171_701-3168del
NM_000386.4:c.*114_*117del MANE Select NP_000377.1:n.*114_*117del
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Search 100 bp 3'