Canonical Allele Identifier: CA2195297084

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90793760_90793765delinsGGGCTT , CM000677.2:g.90793760_90793765delinsGGGCTT	GRCh38
NC_000015.9:g.91336990_91336995delinsGGGCTT , CM000677.1:g.91336990_91336995delinsGGGCTT	GRCh37
NC_000015.8:g.89137994_89137999delinsGGGCTT	NCBI36
NG_007272.1:g.81389_81394delinsGGGCTT , LRG_20:g.81389_81394delinsGGGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3020-407_3020-402delinsGGGCTT MANE Select	ENSP00000347232.3:n.3020-407_3020-402delinsGGGCTT
ENST00000560559.2:n.1593-407_1593-402delinsGGGCTT
ENST00000648453.1:c.3020-407_3020-402delinsGGGCTT	ENSP00000497646.1:n.3020-407_3020-402delinsGGGCTT
ENST00000680772.1:c.3020-407_3020-402delinsGGGCTT	ENSP00000506117.1:n.3020-407_3020-402delinsGGGCTT
ENST00000681142.1:c.3020-407_3020-402delinsGGGCTT	ENSP00000506682.1:n.3020-407_3020-402delinsGGGCTT
ENST00000355112.7:c.3020-407_3020-402delinsGGGCTT	ENSP00000347232.3:n.3020-407_3020-402delinsGGGCTT
ENST00000559724.5:c.*1944-407_*1944-402delinsGGGCTT	ENSP00000453359.1:n.*1944-407_*1944-402delinsGGGCTT
ENST00000560136.5:n.1046-407_1046-402delinsGGGCTT
ENST00000560509.5:c.3020-407_3020-402delinsGGGCTT	ENSP00000454158.1:n.3020-407_3020-402delinsGGGCTT
ENST00000560559.1:n.557-407_557-402delinsGGGCTT
NM_000057.3:c.3020-407_3020-402delinsGGGCTT	NP_000048.1:n.3020-407_3020-402delinsGGGCTT
NM_001287246.1:c.3020-407_3020-402delinsGGGCTT	NP_001274175.1:n.3020-407_3020-402delinsGGGCTT
NM_001287247.1:c.3020-407_3020-402delinsGGGCTT	NP_001274176.1:n.3020-407_3020-402delinsGGGCTT
NM_001287248.1:c.1895-407_1895-402delinsGGGCTT	NP_001274177.1:n.1895-407_1895-402delinsGGGCTT
XM_006720632.2:c.1058-407_1058-402delinsGGGCTT	XP_006720695.1:n.1058-407_1058-402delinsGGGCTT
XM_011521881.1:c.1706-407_1706-402delinsGGGCTT	XP_011520183.1:n.1706-407_1706-402delinsGGGCTT
XM_011521881.2:c.1706-407_1706-402delinsGGGCTT	XP_011520183.1:n.1706-407_1706-402delinsGGGCTT
NM_000057.4:c.3020-407_3020-402delinsGGGCTT MANE Select	NP_000048.1:n.3020-407_3020-402delinsGGGCTT
NM_001287246.2:c.3020-407_3020-402delinsGGGCTT	NP_001274175.1:n.3020-407_3020-402delinsGGGCTT
NM_001287247.2:c.3020-407_3020-402delinsGGGCTT	NP_001274176.1:n.3020-407_3020-402delinsGGGCTT
NM_001287248.2:c.1895-407_1895-402delinsGGGCTT	NP_001274177.1:n.1895-407_1895-402delinsGGGCTT