Canonical Allele Identifier: CA2580610781

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766927_90766928delinsTC , CM000677.2:g.90766927_90766928delinsTC	GRCh38
NC_000015.9:g.91310157_91310158delinsTC , CM000677.1:g.91310157_91310158delinsTC	GRCh37
NC_000015.8:g.89111161_89111162delinsTC	NCBI36
NG_007272.1:g.54556_54557delinsTC , LRG_20:g.54556_54557delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2211_2212delinsTC MANE Select	ENSP00000347232.3:p.Thr738Pro
ENST00000648453.1:c.2211_2212delinsTC	ENSP00000497646.1:p.Thr738Pro
ENST00000680772.1:c.2211_2212delinsTC	ENSP00000506117.1:p.Thr738Pro
ENST00000681142.1:c.2211_2212delinsTC	ENSP00000506682.1:p.Thr738Pro
ENST00000355112.7:c.2211_2212delinsTC	ENSP00000347232.3:p.Thr738Pro
ENST00000559426.5:n.388_389delinsTC
ENST00000559724.5:c.*1135_*1136delinsTC	ENSP00000453359.1:n.*1135_*1136delinsTC
ENST00000560136.5:n.237_238delinsTC
ENST00000560509.5:c.2211_2212delinsTC	ENSP00000454158.1:p.Thr738Pro
NM_000057.3:c.2211_2212delinsTC	NP_000048.1:p.Thr738Pro
NM_001287246.1:c.2211_2212delinsTC	NP_001274175.1:p.Thr738Pro
NM_001287247.1:c.2211_2212delinsTC	NP_001274176.1:p.Thr738Pro
NM_001287248.1:c.1086_1087delinsTC	NP_001274177.1:p.Thr363Pro
XM_006720632.2:c.249_250delinsTC	XP_006720695.1:p.Thr84Pro
XM_011521881.1:c.897_898delinsTC	XP_011520183.1:p.Thr300Pro
XM_011521882.1:c.2211_2212delinsTC	XP_011520184.1:p.Thr738Pro
XM_011521881.2:c.897_898delinsTC	XP_011520183.1:p.Thr300Pro
XM_011521882.3:c.2211_2212delinsTC	XP_011520184.1:p.Thr738Pro
NM_000057.4:c.2211_2212delinsTC MANE Select	NP_000048.1:p.Thr738Pro
NM_001287246.2:c.2211_2212delinsTC	NP_001274175.1:p.Thr738Pro
NM_001287247.2:c.2211_2212delinsTC	NP_001274176.1:p.Thr738Pro
NM_001287248.2:c.1086_1087delinsTC	NP_001274177.1:p.Thr363Pro