Canonical Allele Identifier: CA2195302338

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811245_90811246delinsAG , CM000677.2:g.90811245_90811246delinsAG	GRCh38
NC_000015.9:g.91354475_91354476delinsAG , CM000677.1:g.91354475_91354476delinsAG	GRCh37
NC_000015.8:g.89155479_89155480delinsAG	NCBI36
NG_007272.1:g.98874_98875delinsAG , LRG_20:g.98874_98875delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3915_3916delinsAG MANE Select	ENSP00000347232.3:p.Arg1305=
ENST00000560559.2:n.2488_2489delinsAG
ENST00000648453.1:c.3915_3916delinsAG	ENSP00000497646.1:p.Arg1305=
ENST00000680772.1:c.3915_3916delinsAG	ENSP00000506117.1:p.Arg1305=
ENST00000681142.1:c.3915_3916delinsAG	ENSP00000506682.1:p.Arg1305=
ENST00000355112.7:c.3915_3916delinsAG	ENSP00000347232.3:p.Arg1305=
ENST00000558825.5:n.1262_1263delinsAG
ENST00000559724.5:c.*2839_*2840delinsAG	ENSP00000453359.1:n.*2839_*2840delinsAG
ENST00000560136.5:n.1941_1942delinsAG
ENST00000560509.5:c.3522_3523delinsAG	ENSP00000454158.1:p.Arg1174=
ENST00000560821.1:n.335_336delinsAG
NM_000057.3:c.3915_3916delinsAG	NP_000048.1:p.Arg1305=
NM_001287246.1:c.3915_3916delinsAG	NP_001274175.1:p.Arg1305=
NM_001287247.1:c.3522_3523delinsAG	NP_001274176.1:p.Arg1174=
NM_001287248.1:c.2790_2791delinsAG	NP_001274177.1:p.Arg930=
XM_006720632.2:c.1953_1954delinsAG	XP_006720695.1:p.Arg651=
XM_011521881.1:c.2601_2602delinsAG	XP_011520183.1:p.Arg867=
XM_011521881.2:c.2601_2602delinsAG	XP_011520183.1:p.Arg867=
NM_000057.4:c.3915_3916delinsAG MANE Select	NP_000048.1:p.Arg1305=
NM_001287246.2:c.3915_3916delinsAG	NP_001274175.1:p.Arg1305=
NM_001287247.2:c.3522_3523delinsAG	NP_001274176.1:p.Arg1174=
NM_001287248.2:c.2790_2791delinsAG	NP_001274177.1:p.Arg930=