Canonical Allele Identifier: CA2536281993

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790715_90790716insGCACAGACTTGAAGGAACATTTT , CM000677.2:g.90790715_90790716insGCACAGACTTGAAGGAACATTTT	GRCh38
NC_000015.9:g.91333945_91333946insGCACAGACTTGAAGGAACATTTT , CM000677.1:g.91333945_91333946insGCACAGACTTGAAGGAACATTTT	GRCh37
NC_000015.8:g.89134949_89134950insGCACAGACTTGAAGGAACATTTT	NCBI36
NG_007272.1:g.78344_78345insGCACAGACTTGAAGGAACATTTT , LRG_20:g.78344_78345insGCACAGACTTGAAGGAACATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2890_2891insGCACAGACTTGAAGGAACATTTT MANE Select	ENSP00000347232.3:p.Ala964GlyfsTer?
ENST00000560559.2:n.1463_1464insGCACAGACTTGAAGGAACATTTT
ENST00000648453.1:c.2890_2891insGCACAGACTTGAAGGAACATTTT	ENSP00000497646.1:p.Ala964GlyfsTer?
ENST00000680772.1:c.2890_2891insGCACAGACTTGAAGGAACATTTT	ENSP00000506117.1:p.Ala964GlyfsTer?
ENST00000681142.1:c.2890_2891insGCACAGACTTGAAGGAACATTTT	ENSP00000506682.1:p.Ala964GlyfsTer?
ENST00000355112.7:c.2890_2891insGCACAGACTTGAAGGAACATTTT	ENSP00000347232.3:p.Ala964GlyfsTer?
ENST00000559724.5:c.*1814_*1815insGCACAGACTTGAAGGAACATTTT	ENSP00000453359.1:n.*1814_*1815insGCACAGACTTGAAGGAACATTTT
ENST00000560136.5:n.916_917insGCACAGACTTGAAGGAACATTTT
ENST00000560509.5:c.2890_2891insGCACAGACTTGAAGGAACATTTT	ENSP00000454158.1:p.Ala964GlyfsTer?
ENST00000560559.1:n.427_428insGCACAGACTTGAAGGAACATTTT
NM_000057.3:c.2890_2891insGCACAGACTTGAAGGAACATTTT	NP_000048.1:p.Ala964GlyfsTer?
NM_001287246.1:c.2890_2891insGCACAGACTTGAAGGAACATTTT	NP_001274175.1:p.Ala964GlyfsTer?
NM_001287247.1:c.2890_2891insGCACAGACTTGAAGGAACATTTT	NP_001274176.1:p.Ala964GlyfsTer?
NM_001287248.1:c.1765_1766insGCACAGACTTGAAGGAACATTTT	NP_001274177.1:p.Ala589GlyfsTer?
XM_006720632.2:c.928_929insGCACAGACTTGAAGGAACATTTT	XP_006720695.1:p.Ala310GlyfsTer?
XM_011521881.1:c.1576_1577insGCACAGACTTGAAGGAACATTTT	XP_011520183.1:p.Ala526GlyfsTer?
XM_011521881.2:c.1576_1577insGCACAGACTTGAAGGAACATTTT	XP_011520183.1:p.Ala526GlyfsTer?
NM_000057.4:c.2890_2891insGCACAGACTTGAAGGAACATTTT MANE Select	NP_000048.1:p.Ala964GlyfsTer?
NM_001287246.2:c.2890_2891insGCACAGACTTGAAGGAACATTTT	NP_001274175.1:p.Ala964GlyfsTer?
NM_001287247.2:c.2890_2891insGCACAGACTTGAAGGAACATTTT	NP_001274176.1:p.Ala964GlyfsTer?
NM_001287248.2:c.1765_1766insGCACAGACTTGAAGGAACATTTT	NP_001274177.1:p.Ala589GlyfsTer?