Canonical Allele Identifier: CA2195302354

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811274_90811275delinsTC , CM000677.2:g.90811274_90811275delinsTC	GRCh38
NC_000015.9:g.91354504_91354505delinsTC , CM000677.1:g.91354504_91354505delinsTC	GRCh37
NC_000015.8:g.89155508_89155509delinsTC	NCBI36
NG_007272.1:g.98903_98904delinsTC , LRG_20:g.98903_98904delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3944_3945delinsTC MANE Select	ENSP00000347232.3:p.Leu1315=
ENST00000560559.2:n.2517_2518delinsTC
ENST00000648453.1:c.3944_3945delinsTC	ENSP00000497646.1:p.Leu1315=
ENST00000680772.1:c.3944_3945delinsTC	ENSP00000506117.1:p.Leu1315=
ENST00000681142.1:c.3944_3945delinsTC	ENSP00000506682.1:p.Leu1315=
ENST00000355112.7:c.3944_3945delinsTC	ENSP00000347232.3:p.Leu1315=
ENST00000558825.5:n.1291_1292delinsTC
ENST00000559724.5:c.*2868_*2869delinsTC	ENSP00000453359.1:n.*2868_*2869delinsTC
ENST00000560136.5:n.1970_1971delinsTC
ENST00000560509.5:c.3551_3552delinsTC	ENSP00000454158.1:p.Leu1184=
ENST00000560821.1:n.364_365delinsTC
NM_000057.3:c.3944_3945delinsTC	NP_000048.1:p.Leu1315=
NM_001287246.1:c.3944_3945delinsTC	NP_001274175.1:p.Leu1315=
NM_001287247.1:c.3551_3552delinsTC	NP_001274176.1:p.Leu1184=
NM_001287248.1:c.2819_2820delinsTC	NP_001274177.1:p.Leu940=
XM_006720632.2:c.1982_1983delinsTC	XP_006720695.1:p.Leu661=
XM_011521881.1:c.2630_2631delinsTC	XP_011520183.1:p.Leu877=
XM_011521881.2:c.2630_2631delinsTC	XP_011520183.1:p.Leu877=
NM_000057.4:c.3944_3945delinsTC MANE Select	NP_000048.1:p.Leu1315=
NM_001287246.2:c.3944_3945delinsTC	NP_001274175.1:p.Leu1315=
NM_001287247.2:c.3551_3552delinsTC	NP_001274176.1:p.Leu1184=
NM_001287248.2:c.2819_2820delinsTC	NP_001274177.1:p.Leu940=