Canonical Allele Identifier: CA2195297264

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794158_90794161delinsCTCT , CM000677.2:g.90794158_90794161delinsCTCT	GRCh38
NC_000015.9:g.91337388_91337391delinsCTCT , CM000677.1:g.91337388_91337391delinsCTCT	GRCh37
NC_000015.8:g.89138392_89138395delinsCTCT	NCBI36
NG_007272.1:g.81787_81790delinsCTCT , LRG_20:g.81787_81790delinsCTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3020-9_3020-6delinsCTCT MANE Select	ENSP00000347232.3:n.3020-9_3020-6delinsCT...
ENST00000560559.2:n.1593-9_1593-6delinsCTCT
ENST00000648453.1:c.3020-9_3020-6delinsCTCT	ENSP00000497646.1:n.3020-9_3020-6delinsCT...
ENST00000680772.1:c.3020-9_3020-6delinsCTCT	ENSP00000506117.1:n.3020-9_3020-6delinsCT...
ENST00000681142.1:c.3020-9_3020-6delinsCTCT	ENSP00000506682.1:n.3020-9_3020-6delinsCT...
ENST00000355112.7:c.3020-9_3020-6delinsCTCT	ENSP00000347232.3:n.3020-9_3020-6delinsCT...
ENST00000558825.5:n.358_361delinsCTCT
ENST00000559724.5:c.*1944-9_*1944-6delinsCTCT	ENSP00000453359.1:n.*1944-9_*1944-6delins...
ENST00000560136.5:n.1046-9_1046-6delinsCTCT
ENST00000560509.5:c.3020-9_3020-6delinsCTCT	ENSP00000454158.1:n.3020-9_3020-6delinsCT...
ENST00000560559.1:n.557-9_557-6delinsCTCT
NM_000057.3:c.3020-9_3020-6delinsCTCT	NP_000048.1:n.3020-9_3020-6delinsCTCT
NM_001287246.1:c.3020-9_3020-6delinsCTCT	NP_001274175.1:n.3020-9_3020-6delinsCTCT
NM_001287247.1:c.3020-9_3020-6delinsCTCT	NP_001274176.1:n.3020-9_3020-6delinsCTCT
NM_001287248.1:c.1895-9_1895-6delinsCTCT	NP_001274177.1:n.1895-9_1895-6delinsCTCT
XM_006720632.2:c.1058-9_1058-6delinsCTCT	XP_006720695.1:n.1058-9_1058-6delinsCTCT
XM_011521881.1:c.1706-9_1706-6delinsCTCT	XP_011520183.1:n.1706-9_1706-6delinsCTCT
XM_011521881.2:c.1706-9_1706-6delinsCTCT	XP_011520183.1:n.1706-9_1706-6delinsCTCT
NM_000057.4:c.3020-9_3020-6delinsCTCT MANE Select	NP_000048.1:n.3020-9_3020-6delinsCTCT
NM_001287246.2:c.3020-9_3020-6delinsCTCT	NP_001274175.1:n.3020-9_3020-6delinsCTCT
NM_001287247.2:c.3020-9_3020-6delinsCTCT	NP_001274176.1:n.3020-9_3020-6delinsCTCT
NM_001287248.2:c.1895-9_1895-6delinsCTCT	NP_001274177.1:n.1895-9_1895-6delinsCTCT