Canonical Allele Identifier: CA2580090297

Gene: BLM

Linked Data

• ClinVar Variation Id: 2091575
• ClinVar RCV Id: RCV002991645

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794242dup , CM000677.2:g.90794242dup	GRCh38
NC_000015.9:g.91337472dup , CM000677.1:g.91337472dup	GRCh37
NC_000015.8:g.89138476dup	NCBI36
NG_007272.1:g.81871dup , LRG_20:g.81871dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3095dup MANE Select	ENSP00000347232.3:p.Asn1032LysfsTer16
ENST00000560559.2:n.1668dup
ENST00000648453.1:c.3095dup	ENSP00000497646.1:p.Asn1032LysfsTer16
ENST00000680772.1:c.3095dup	ENSP00000506117.1:p.Asn1032LysfsTer16
ENST00000681142.1:c.3095dup	ENSP00000506682.1:p.Asn1032LysfsTer16
ENST00000355112.7:c.3095dup	ENSP00000347232.3:p.Asn1032LysfsTer16
ENST00000558825.5:n.442dup
ENST00000559724.5:c.*2019dup	ENSP00000453359.1:n.*2019dup
ENST00000560136.5:n.1121dup
ENST00000560509.5:c.3095dup	ENSP00000454158.1:p.Asn1032LysfsTer16
ENST00000560559.1:n.632dup
NM_000057.3:c.3095dup	NP_000048.1:p.Asn1032LysfsTer16
NM_001287246.1:c.3095dup	NP_001274175.1:p.Asn1032LysfsTer16
NM_001287247.1:c.3095dup	NP_001274176.1:p.Asn1032LysfsTer16
NM_001287248.1:c.1970dup	NP_001274177.1:p.Asn657LysfsTer16
XM_006720632.2:c.1133dup	XP_006720695.1:p.Asn378LysfsTer16
XM_011521881.1:c.1781dup	XP_011520183.1:p.Asn594LysfsTer16
XM_011521881.2:c.1781dup	XP_011520183.1:p.Asn594LysfsTer16
NM_000057.4:c.3095dup MANE Select	NP_000048.1:p.Asn1032LysfsTer16
NM_001287246.2:c.3095dup	NP_001274175.1:p.Asn1032LysfsTer16
NM_001287247.2:c.3095dup	NP_001274176.1:p.Asn1032LysfsTer16
NM_001287248.2:c.1970dup	NP_001274177.1:p.Asn657LysfsTer16