Canonical Allele Identifier: CA2630379344

Gene: BLM

Linked Data

• gnomAD v4: 15-90754664-TTATAATTGAGGAAATTTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754665_90754683del , CM000677.2:g.90754665_90754683del	GRCh38
NC_000015.9:g.91297895_91297913del , CM000677.1:g.91297895_91297913del	GRCh37
NC_000015.8:g.89098899_89098917del	NCBI36
NG_007272.1:g.42294_42312del , LRG_20:g.42294_42312del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.960-146_960-128del MANE Select	ENSP00000347232.3:n.960-146_960-128del
ENST00000648453.1:c.960-146_960-128del	ENSP00000497646.1:n.960-146_960-128del
ENST00000680772.1:c.960-146_960-128del	ENSP00000506117.1:n.960-146_960-128del
ENST00000681142.1:c.960-146_960-128del	ENSP00000506682.1:n.960-146_960-128del
ENST00000355112.7:c.960-146_960-128del	ENSP00000347232.3:n.960-146_960-128del
ENST00000558599.1:n.221-146_221-128del
ENST00000559724.5:c.960-146_960-128del	ENSP00000453359.1:n.960-146_960-128del
ENST00000560509.5:c.960-146_960-128del	ENSP00000454158.1:n.960-146_960-128del
NM_000057.3:c.960-146_960-128del	NP_000048.1:n.960-146_960-128del
NM_001287246.1:c.960-146_960-128del	NP_001274175.1:n.960-146_960-128del
NM_001287247.1:c.960-146_960-128del	NP_001274176.1:n.960-146_960-128del
NM_001287248.1:c.-332-146_-332-128del	NP_001274177.1:n.-332-146_-332-128del
XM_011521881.1:c.-222-146_-222-128del	XP_011520183.1:n.-222-146_-222-128del
XM_011521882.1:c.960-146_960-128del	XP_011520184.1:n.960-146_960-128del
XM_011521881.2:c.-222-146_-222-128del	XP_011520183.1:n.-222-146_-222-128del
XM_011521882.3:c.960-146_960-128del	XP_011520184.1:n.960-146_960-128del
NM_000057.4:c.960-146_960-128del MANE Select	NP_000048.1:n.960-146_960-128del
NM_001287246.2:c.960-146_960-128del	NP_001274175.1:n.960-146_960-128del
NM_001287247.2:c.960-146_960-128del	NP_001274176.1:n.960-146_960-128del
NM_001287248.2:c.-332-146_-332-128del	NP_001274177.1:n.-332-146_-332-128del