Canonical Allele Identifier: CA7738697

Gene: BLM

Linked Data

• dbSNP Id: rs750667270
• ExAC: 15:91310152 TATC / T
• gnomAD v2: 15-91310152-TATC-T
• gnomAD v3: 15-90766922-TATC-T
• gnomAD v4: 15-90766922-TATC-T
• MyVariant Identifiers: chr15:g.91310153_91310155del (hg19) ; chr15:g.90766923_90766925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766923_90766925del , CM000677.2:g.90766923_90766925del	GRCh38
NC_000015.9:g.91310153_91310155del , CM000677.1:g.91310153_91310155del	GRCh37
NC_000015.8:g.89111157_89111159del	NCBI36
NG_007272.1:g.54552_54554del , LRG_20:g.54552_54554del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.2207_2209del MANE Select	ENSP00000347232.3:p.Tyr736del
ENST00000648453.1:c.2207_2209del	ENSP00000497646.1:p.Tyr736del
ENST00000680772.1:c.2207_2209del	ENSP00000506117.1:p.Tyr736del
ENST00000681142.1:c.2207_2209del	ENSP00000506682.1:p.Tyr736del
ENST00000355112.7:c.2207_2209del	ENSP00000347232.3:p.Tyr736del
ENST00000559426.5:n.384_386del
ENST00000559724.5:c.*1131_*1133del	ENSP00000453359.1:n.*1131_*1133del
ENST00000560136.5:n.233_235del
ENST00000560509.5:c.2207_2209del	ENSP00000454158.1:p.Tyr736del
NM_000057.3:c.2207_2209del	NP_000048.1:p.Tyr736del
NM_001287246.1:c.2207_2209del	NP_001274175.1:p.Tyr736del
NM_001287247.1:c.2207_2209del	NP_001274176.1:p.Tyr736del
NM_001287248.1:c.1082_1084del	NP_001274177.1:p.Tyr361del
XM_006720632.2:c.245_247del	XP_006720695.1:p.Tyr82del
XM_011521881.1:c.893_895del	XP_011520183.1:p.Tyr298del
XM_011521882.1:c.2207_2209del	XP_011520184.1:p.Tyr736del
XM_011521881.2:c.893_895del	XP_011520183.1:p.Tyr298del
XM_011521882.3:c.2207_2209del	XP_011520184.1:p.Tyr736del
NM_000057.4:c.2207_2209del MANE Select	NP_000048.1:p.Tyr736del
NM_001287246.2:c.2207_2209del	NP_001274175.1:p.Tyr736del
NM_001287247.2:c.2207_2209del	NP_001274176.1:p.Tyr736del
NM_001287248.2:c.1082_1084del	NP_001274177.1:p.Tyr361del