Canonical Allele Identifier: CA625432868
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs1366036785
gnomAD v2: 17-28576032-G-GT
MyVariant Identifiers: chr17:g.28576032_28576033insT (hg19) chr17:g.30249014_30249015insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249015dup , CM000679.2:g.30249015dup GRCh38
NC_000017.10:g.28576033dup , CM000679.1:g.28576033dup GRCh37
NC_000017.9:g.25600159dup NCBI36
NG_011440.1:g.48042dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*2dup MANE Select ENSP00000261714.6:n.*2dup
ENST00000261714.10:c.*2dup ENSP00000261714.6:n.*2dup
ENST00000578090.5:c.*1044dup ENSP00000462353.1:n.*1044dup
ENST00000578795.1:n.1269dup
NM_000386.3:c.*2dup NP_000377.1:n.*2dup
XR_934653.1:n.701-772dup
XR_934655.1:n.701-3059dup
NM_000386.4:c.*2dup MANE Select NP_000377.1:n.*2dup
Search 100 bp 5'
Search 100 bp 3'