Canonical Allele Identifier: CA717021072

Gene: BLM

Linked Data

• dbSNP Id: rs1379808117
• MyVariant Identifiers: chr15:g.91309984_91309993del (hg19) ; chr15:g.90766754_90766763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766754_90766763del , CM000677.2:g.90766754_90766763del	GRCh38
NC_000015.9:g.91309984_91309993del , CM000677.1:g.91309984_91309993del	GRCh37
NC_000015.8:g.89110988_89110997del	NCBI36
NG_007272.1:g.54383_54392del , LRG_20:g.54383_54392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2194-156_2194-147del MANE Select	ENSP00000347232.3:n.2194-156_2194-147del
ENST00000648453.1:c.2194-156_2194-147del	ENSP00000497646.1:n.2194-156_2194-147del
ENST00000680772.1:c.2194-156_2194-147del	ENSP00000506117.1:n.2194-156_2194-147del
ENST00000681142.1:c.2194-156_2194-147del	ENSP00000506682.1:n.2194-156_2194-147del
ENST00000355112.7:c.2194-156_2194-147del	ENSP00000347232.3:n.2194-156_2194-147del
ENST00000559426.5:n.371-156_371-147del
ENST00000559724.5:c.*1118-156_*1118-147del	ENSP00000453359.1:n.*1118-156_*1118-147del
ENST00000560136.5:n.220-156_220-147del
ENST00000560509.5:c.2194-156_2194-147del	ENSP00000454158.1:n.2194-156_2194-147del
NM_000057.3:c.2194-156_2194-147del	NP_000048.1:n.2194-156_2194-147del
NM_001287246.1:c.2194-156_2194-147del	NP_001274175.1:n.2194-156_2194-147del
NM_001287247.1:c.2194-156_2194-147del	NP_001274176.1:n.2194-156_2194-147del
NM_001287248.1:c.1069-156_1069-147del	NP_001274177.1:n.1069-156_1069-147del
XM_006720632.2:c.232-156_232-147del	XP_006720695.1:n.232-156_232-147del
XM_011521881.1:c.880-156_880-147del	XP_011520183.1:n.880-156_880-147del
XM_011521882.1:c.2194-156_2194-147del	XP_011520184.1:n.2194-156_2194-147del
XM_011521881.2:c.880-156_880-147del	XP_011520183.1:n.880-156_880-147del
XM_011521882.3:c.2194-156_2194-147del	XP_011520184.1:n.2194-156_2194-147del
NM_000057.4:c.2194-156_2194-147del MANE Select	NP_000048.1:n.2194-156_2194-147del
NM_001287246.2:c.2194-156_2194-147del	NP_001274175.1:n.2194-156_2194-147del
NM_001287247.2:c.2194-156_2194-147del	NP_001274176.1:n.2194-156_2194-147del
NM_001287248.2:c.1069-156_1069-147del	NP_001274177.1:n.1069-156_1069-147del