Canonical Allele Identifier: CA2195297273

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794174_90794175delinsAG , CM000677.2:g.90794174_90794175delinsAG	GRCh38
NC_000015.9:g.91337404_91337405delinsAG , CM000677.1:g.91337404_91337405delinsAG	GRCh37
NC_000015.8:g.89138408_89138409delinsAG	NCBI36
NG_007272.1:g.81803_81804delinsAG , LRG_20:g.81803_81804delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3027_3028delinsAG MANE Select	ENSP00000347232.3:p.Lys1009=
ENST00000560559.2:n.1600_1601delinsAG
ENST00000648453.1:c.3027_3028delinsAG	ENSP00000497646.1:p.Lys1009=
ENST00000680772.1:c.3027_3028delinsAG	ENSP00000506117.1:p.Lys1009=
ENST00000681142.1:c.3027_3028delinsAG	ENSP00000506682.1:p.Lys1009=
ENST00000355112.7:c.3027_3028delinsAG	ENSP00000347232.3:p.Lys1009=
ENST00000558825.5:n.374_375delinsAG
ENST00000559724.5:c.*1951_*1952delinsAG	ENSP00000453359.1:n.*1951_*1952delinsAG
ENST00000560136.5:n.1053_1054delinsAG
ENST00000560509.5:c.3027_3028delinsAG	ENSP00000454158.1:p.Lys1009=
ENST00000560559.1:n.564_565delinsAG
NM_000057.3:c.3027_3028delinsAG	NP_000048.1:p.Lys1009=
NM_001287246.1:c.3027_3028delinsAG	NP_001274175.1:p.Lys1009=
NM_001287247.1:c.3027_3028delinsAG	NP_001274176.1:p.Lys1009=
NM_001287248.1:c.1902_1903delinsAG	NP_001274177.1:p.Lys634=
XM_006720632.2:c.1065_1066delinsAG	XP_006720695.1:p.Lys355=
XM_011521881.1:c.1713_1714delinsAG	XP_011520183.1:p.Lys571=
XM_011521881.2:c.1713_1714delinsAG	XP_011520183.1:p.Lys571=
NM_000057.4:c.3027_3028delinsAG MANE Select	NP_000048.1:p.Lys1009=
NM_001287246.2:c.3027_3028delinsAG	NP_001274175.1:p.Lys1009=
NM_001287247.2:c.3027_3028delinsAG	NP_001274176.1:p.Lys1009=
NM_001287248.2:c.1902_1903delinsAG	NP_001274177.1:p.Lys634=