Canonical Allele Identifier: CA2195293701

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804341_90804343delinsACT , CM000677.2:g.90804341_90804343delinsACT	GRCh38
NC_000015.9:g.91347571_91347573delinsACT , CM000677.1:g.91347571_91347573delinsACT	GRCh37
NC_000015.8:g.89148575_89148577delinsACT	NCBI36
NG_007272.1:g.91970_91972delinsACT , LRG_20:g.91970_91972delinsACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3733_3735delinsACT MANE Select	ENSP00000347232.3:p.Thr1245=
ENST00000560559.2:n.2306_2308delinsACT
ENST00000648453.1:c.3733_3735delinsACT	ENSP00000497646.1:p.Thr1245=
ENST00000680772.1:c.3733_3735delinsACT	ENSP00000506117.1:p.Thr1245=
ENST00000681142.1:c.3733_3735delinsACT	ENSP00000506682.1:p.Thr1245=
ENST00000355112.7:c.3733_3735delinsACT	ENSP00000347232.3:p.Thr1245=
ENST00000558825.5:n.1080_1082delinsACT
ENST00000559724.5:c.*2657_*2659delinsACT	ENSP00000453359.1:n.*2657_*2659delinsACT
ENST00000560136.5:n.1759_1761delinsACT
ENST00000560509.5:c.3359-4796_3359-4794delinsACT	ENSP00000454158.1:n.3359-4796_3359-4794de...
NM_000057.3:c.3733_3735delinsACT	NP_000048.1:p.Thr1245=
NM_001287246.1:c.3733_3735delinsACT	NP_001274175.1:p.Thr1245=
NM_001287247.1:c.3359-4796_3359-4794delinsACT	NP_001274176.1:n.3359-4796_3359-4794delin...
NM_001287248.1:c.2608_2610delinsACT	NP_001274177.1:p.Thr870=
XM_006720632.2:c.1771_1773delinsACT	XP_006720695.1:p.Thr591=
XM_011521881.1:c.2419_2421delinsACT	XP_011520183.1:p.Thr807=
XM_011521881.2:c.2419_2421delinsACT	XP_011520183.1:p.Thr807=
NM_000057.4:c.3733_3735delinsACT MANE Select	NP_000048.1:p.Thr1245=
NM_001287246.2:c.3733_3735delinsACT	NP_001274175.1:p.Thr1245=
NM_001287247.2:c.3359-4796_3359-4794delinsACT	NP_001274176.1:n.3359-4796_3359-4794delin...
NM_001287248.2:c.2608_2610delinsACT	NP_001274177.1:p.Thr870=