Canonical Allele Identifier: CA2580090281

Gene: BLM

Linked Data

• ClinVar Variation Id: 2092445
• ClinVar RCV Id: RCV003008212

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811332_90811333delinsAT , CM000677.2:g.90811332_90811333delinsAT	GRCh38
NC_000015.9:g.91354562_91354563delinsAT , CM000677.1:g.91354562_91354563delinsAT	GRCh37
NC_000015.8:g.89155566_89155567delinsAT	NCBI36
NG_007272.1:g.98961_98962delinsAT , LRG_20:g.98961_98962delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.4002_4003delinsAT MANE Select	ENSP00000347232.3:p.Arg1335Ter
ENST00000560559.2:n.2575_2576delinsAT
ENST00000648453.1:c.4002_4003delinsAT	ENSP00000497646.1:p.Arg1335Ter
ENST00000680772.1:c.4002_4003delinsAT	ENSP00000506117.1:p.Arg1335Ter
ENST00000681142.1:c.4002_4003delinsAT	ENSP00000506682.1:p.Arg1335Ter
ENST00000355112.7:c.4002_4003delinsAT	ENSP00000347232.3:p.Arg1335Ter
ENST00000558825.5:n.1349_1350delinsAT
ENST00000559724.5:c.*2926_*2927delinsAT	ENSP00000453359.1:n.*2926_*2927delinsAT
ENST00000560509.5:c.3609_3610delinsAT	ENSP00000454158.1:p.Arg1204Ter
ENST00000560821.1:n.422_423delinsAT
NM_000057.3:c.4002_4003delinsAT	NP_000048.1:p.Arg1335Ter
NM_001287246.1:c.4002_4003delinsAT	NP_001274175.1:p.Arg1335Ter
NM_001287247.1:c.3609_3610delinsAT	NP_001274176.1:p.Arg1204Ter
NM_001287248.1:c.2877_2878delinsAT	NP_001274177.1:p.Arg960Ter
XM_006720632.2:c.2040_2041delinsAT	XP_006720695.1:p.Arg681Ter
XM_011521881.1:c.2688_2689delinsAT	XP_011520183.1:p.Arg897Ter
XM_011521881.2:c.2688_2689delinsAT	XP_011520183.1:p.Arg897Ter
NM_000057.4:c.4002_4003delinsAT MANE Select	NP_000048.1:p.Arg1335Ter
NM_001287246.2:c.4002_4003delinsAT	NP_001274175.1:p.Arg1335Ter
NM_001287247.2:c.3609_3610delinsAT	NP_001274176.1:p.Arg1204Ter
NM_001287248.2:c.2877_2878delinsAT	NP_001274177.1:p.Arg960Ter