Canonical Allele Identifier: CA2195302381

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811326_90811331delinsTGAAAG , CM000677.2:g.90811326_90811331delinsTGAAAG	GRCh38
NC_000015.9:g.91354556_91354561delinsTGAAAG , CM000677.1:g.91354556_91354561delinsTGAAAG	GRCh37
NC_000015.8:g.89155560_89155565delinsTGAAAG	NCBI36
NG_007272.1:g.98955_98960delinsTGAAAG , LRG_20:g.98955_98960delinsTGAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3996_4001delinsTGAAAG MANE Select	ENSP00000347232.3:p.Asn1332=
ENST00000560559.2:n.2569_2574delinsTGAAAG
ENST00000648453.1:c.3996_4001delinsTGAAAG	ENSP00000497646.1:p.Asn1332=
ENST00000680772.1:c.3996_4001delinsTGAAAG	ENSP00000506117.1:p.Asn1332=
ENST00000681142.1:c.3996_4001delinsTGAAAG	ENSP00000506682.1:p.Asn1332=
ENST00000355112.7:c.3996_4001delinsTGAAAG	ENSP00000347232.3:p.Asn1332=
ENST00000558825.5:n.1343_1348delinsTGAAAG
ENST00000559724.5:c.*2920_*2925delinsTGAAAG	ENSP00000453359.1:n.*2920_*2925delinsTGAA...
ENST00000560509.5:c.3603_3608delinsTGAAAG	ENSP00000454158.1:p.Asn1201=
ENST00000560821.1:n.416_421delinsTGAAAG
NM_000057.3:c.3996_4001delinsTGAAAG	NP_000048.1:p.Asn1332=
NM_001287246.1:c.3996_4001delinsTGAAAG	NP_001274175.1:p.Asn1332=
NM_001287247.1:c.3603_3608delinsTGAAAG	NP_001274176.1:p.Asn1201=
NM_001287248.1:c.2871_2876delinsTGAAAG	NP_001274177.1:p.Asn957=
XM_006720632.2:c.2034_2039delinsTGAAAG	XP_006720695.1:p.Asn678=
XM_011521881.1:c.2682_2687delinsTGAAAG	XP_011520183.1:p.Asn894=
XM_011521881.2:c.2682_2687delinsTGAAAG	XP_011520183.1:p.Asn894=
NM_000057.4:c.3996_4001delinsTGAAAG MANE Select	NP_000048.1:p.Asn1332=
NM_001287246.2:c.3996_4001delinsTGAAAG	NP_001274175.1:p.Asn1332=
NM_001287247.2:c.3603_3608delinsTGAAAG	NP_001274176.1:p.Asn1201=
NM_001287248.2:c.2871_2876delinsTGAAAG	NP_001274177.1:p.Asn957=