Canonical Allele Identifier: CA2195282932

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766922_90766925delinsTATC , CM000677.2:g.90766922_90766925delinsTATC	GRCh38
NC_000015.9:g.91310152_91310155delinsTATC , CM000677.1:g.91310152_91310155delinsTATC	GRCh37
NC_000015.8:g.89111156_89111159delinsTATC	NCBI36
NG_007272.1:g.54551_54554delinsTATC , LRG_20:g.54551_54554delinsTATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.2206_2209delinsTATC MANE Select	ENSP00000347232.3:p.Tyr736=
ENST00000648453.1:c.2206_2209delinsTATC	ENSP00000497646.1:p.Tyr736=
ENST00000680772.1:c.2206_2209delinsTATC	ENSP00000506117.1:p.Tyr736=
ENST00000681142.1:c.2206_2209delinsTATC	ENSP00000506682.1:p.Tyr736=
ENST00000355112.7:c.2206_2209delinsTATC	ENSP00000347232.3:p.Tyr736=
ENST00000559426.5:n.383_386delinsTATC
ENST00000559724.5:c.*1130_*1133delinsTATC	ENSP00000453359.1:n.*1130_*1133delinsTATC...
ENST00000560136.5:n.232_235delinsTATC
ENST00000560509.5:c.2206_2209delinsTATC	ENSP00000454158.1:p.Tyr736=
NM_000057.3:c.2206_2209delinsTATC	NP_000048.1:p.Tyr736=
NM_001287246.1:c.2206_2209delinsTATC	NP_001274175.1:p.Tyr736=
NM_001287247.1:c.2206_2209delinsTATC	NP_001274176.1:p.Tyr736=
NM_001287248.1:c.1081_1084delinsTATC	NP_001274177.1:p.Tyr361=
XM_006720632.2:c.244_247delinsTATC	XP_006720695.1:p.Tyr82=
XM_011521881.1:c.892_895delinsTATC	XP_011520183.1:p.Tyr298=
XM_011521882.1:c.2206_2209delinsTATC	XP_011520184.1:p.Tyr736=
XM_011521881.2:c.892_895delinsTATC	XP_011520183.1:p.Tyr298=
XM_011521882.3:c.2206_2209delinsTATC	XP_011520184.1:p.Tyr736=
NM_000057.4:c.2206_2209delinsTATC MANE Select	NP_000048.1:p.Tyr736=
NM_001287246.2:c.2206_2209delinsTATC	NP_001274175.1:p.Tyr736=
NM_001287247.2:c.2206_2209delinsTATC	NP_001274176.1:p.Tyr736=
NM_001287248.2:c.1081_1084delinsTATC	NP_001274177.1:p.Tyr361=