Canonical Allele Identifier: CA2580090278

Gene: BLM

Linked Data

• ClinVar Variation Id: 1798403
• ClinVar RCV Id: RCV002442217

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790806_90790807delinsAG , CM000677.2:g.90790806_90790807delinsAG	GRCh38
NC_000015.9:g.91334036_91334037delinsAG , CM000677.1:g.91334036_91334037delinsAG	GRCh37
NC_000015.8:g.89135040_89135041delinsAG	NCBI36
NG_007272.1:g.78435_78436delinsAG , LRG_20:g.78435_78436delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2981_2982delinsAG MANE Select	ENSP00000347232.3:p.Thr994Lys
ENST00000560559.2:n.1554_1555delinsAG
ENST00000648453.1:c.2981_2982delinsAG	ENSP00000497646.1:p.Thr994Lys
ENST00000680772.1:c.2981_2982delinsAG	ENSP00000506117.1:p.Thr994Lys
ENST00000681142.1:c.2981_2982delinsAG	ENSP00000506682.1:p.Thr994Lys
ENST00000355112.7:c.2981_2982delinsAG	ENSP00000347232.3:p.Thr994Lys
ENST00000559724.5:c.*1905_*1906delinsAG	ENSP00000453359.1:n.*1905_*1906delinsAG
ENST00000560136.5:n.1007_1008delinsAG
ENST00000560509.5:c.2981_2982delinsAG	ENSP00000454158.1:p.Thr994Lys
ENST00000560559.1:n.518_519delinsAG
NM_000057.3:c.2981_2982delinsAG	NP_000048.1:p.Thr994Lys
NM_001287246.1:c.2981_2982delinsAG	NP_001274175.1:p.Thr994Lys
NM_001287247.1:c.2981_2982delinsAG	NP_001274176.1:p.Thr994Lys
NM_001287248.1:c.1856_1857delinsAG	NP_001274177.1:p.Thr619Lys
XM_006720632.2:c.1019_1020delinsAG	XP_006720695.1:p.Thr340Lys
XM_011521881.1:c.1667_1668delinsAG	XP_011520183.1:p.Thr556Lys
XM_011521881.2:c.1667_1668delinsAG	XP_011520183.1:p.Thr556Lys
NM_000057.4:c.2981_2982delinsAG MANE Select	NP_000048.1:p.Thr994Lys
NM_001287246.2:c.2981_2982delinsAG	NP_001274175.1:p.Thr994Lys
NM_001287247.2:c.2981_2982delinsAG	NP_001274176.1:p.Thr994Lys
NM_001287248.2:c.1856_1857delinsAG	NP_001274177.1:p.Thr619Lys