Canonical Allele Identifier: CA2195297271

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794169_90794170delinsGA , CM000677.2:g.90794169_90794170delinsGA	GRCh38
NC_000015.9:g.91337399_91337400delinsGA , CM000677.1:g.91337399_91337400delinsGA	GRCh37
NC_000015.8:g.89138403_89138404delinsGA	NCBI36
NG_007272.1:g.81798_81799delinsGA , LRG_20:g.81798_81799delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3022_3023delinsGA MANE Select	ENSP00000347232.3:p.Glu1008=
ENST00000560559.2:n.1595_1596delinsGA
ENST00000648453.1:c.3022_3023delinsGA	ENSP00000497646.1:p.Glu1008=
ENST00000680772.1:c.3022_3023delinsGA	ENSP00000506117.1:p.Glu1008=
ENST00000681142.1:c.3022_3023delinsGA	ENSP00000506682.1:p.Glu1008=
ENST00000355112.7:c.3022_3023delinsGA	ENSP00000347232.3:p.Glu1008=
ENST00000558825.5:n.369_370delinsGA
ENST00000559724.5:c.*1946_*1947delinsGA	ENSP00000453359.1:n.*1946_*1947delinsGA
ENST00000560136.5:n.1048_1049delinsGA
ENST00000560509.5:c.3022_3023delinsGA	ENSP00000454158.1:p.Glu1008=
ENST00000560559.1:n.559_560delinsGA
NM_000057.3:c.3022_3023delinsGA	NP_000048.1:p.Glu1008=
NM_001287246.1:c.3022_3023delinsGA	NP_001274175.1:p.Glu1008=
NM_001287247.1:c.3022_3023delinsGA	NP_001274176.1:p.Glu1008=
NM_001287248.1:c.1897_1898delinsGA	NP_001274177.1:p.Glu633=
XM_006720632.2:c.1060_1061delinsGA	XP_006720695.1:p.Glu354=
XM_011521881.1:c.1708_1709delinsGA	XP_011520183.1:p.Glu570=
XM_011521881.2:c.1708_1709delinsGA	XP_011520183.1:p.Glu570=
NM_000057.4:c.3022_3023delinsGA MANE Select	NP_000048.1:p.Glu1008=
NM_001287246.2:c.3022_3023delinsGA	NP_001274175.1:p.Glu1008=
NM_001287247.2:c.3022_3023delinsGA	NP_001274176.1:p.Glu1008=
NM_001287248.2:c.1897_1898delinsGA	NP_001274177.1:p.Glu633=