Canonical Allele Identifier: CA2549274302

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790770_90790771insGAACATTTTC , CM000677.2:g.90790770_90790771insGAACATTTTC	GRCh38
NC_000015.9:g.91334000_91334001insGAACATTTTC , CM000677.1:g.91334000_91334001insGAACATTTTC	GRCh37
NC_000015.8:g.89135004_89135005insGAACATTTTC	NCBI36
NG_007272.1:g.78399_78400insGAACATTTTC , LRG_20:g.78399_78400insGAACATTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2945_2946insGAACATTTTC MANE Select	ENSP00000347232.3:p.Asp983AsnfsTer18
ENST00000560559.2:n.1518_1519insGAACATTTTC
ENST00000648453.1:c.2945_2946insGAACATTTTC	ENSP00000497646.1:p.Asp983AsnfsTer18
ENST00000680772.1:c.2945_2946insGAACATTTTC	ENSP00000506117.1:p.Asp983AsnfsTer18
ENST00000681142.1:c.2945_2946insGAACATTTTC	ENSP00000506682.1:p.Asp983AsnfsTer18
ENST00000355112.7:c.2945_2946insGAACATTTTC	ENSP00000347232.3:p.Asp983AsnfsTer18
ENST00000559724.5:c.*1869_*1870insGAACATTTTC	ENSP00000453359.1:n.*1869_*1870insGAACATTTTC
ENST00000560136.5:n.971_972insGAACATTTTC
ENST00000560509.5:c.2945_2946insGAACATTTTC	ENSP00000454158.1:p.Asp983AsnfsTer18
ENST00000560559.1:n.482_483insGAACATTTTC
NM_000057.3:c.2945_2946insGAACATTTTC	NP_000048.1:p.Asp983AsnfsTer18
NM_001287246.1:c.2945_2946insGAACATTTTC	NP_001274175.1:p.Asp983AsnfsTer18
NM_001287247.1:c.2945_2946insGAACATTTTC	NP_001274176.1:p.Asp983AsnfsTer18
NM_001287248.1:c.1820_1821insGAACATTTTC	NP_001274177.1:p.Asp608AsnfsTer18
XM_006720632.2:c.983_984insGAACATTTTC	XP_006720695.1:p.Asp329AsnfsTer18
XM_011521881.1:c.1631_1632insGAACATTTTC	XP_011520183.1:p.Asp545AsnfsTer18
XM_011521881.2:c.1631_1632insGAACATTTTC	XP_011520183.1:p.Asp545AsnfsTer18
NM_000057.4:c.2945_2946insGAACATTTTC MANE Select	NP_000048.1:p.Asp983AsnfsTer18
NM_001287246.2:c.2945_2946insGAACATTTTC	NP_001274175.1:p.Asp983AsnfsTer18
NM_001287247.2:c.2945_2946insGAACATTTTC	NP_001274176.1:p.Asp983AsnfsTer18
NM_001287248.2:c.1820_1821insGAACATTTTC	NP_001274177.1:p.Asp608AsnfsTer18