Canonical Allele Identifier: CA16041768
Gene: BLM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371130
ClinVar RCV Id: RCV000412101
dbSNP Id: rs1057517030

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90754934_90754935del , CM000677.2:g.90754934_90754935del GRCh38
NC_000015.9:g.91298164_91298165del , CM000677.1:g.91298164_91298165del GRCh37
NC_000015.8:g.89099168_89099169del NCBI36
NG_007272.1:g.42563_42564del , LRG_20:g.42563_42564del

Transcript Alleles

HGVS Amino-acid change
NM_000057.3:c.1083_1084del VV NP_000048.1:p.Cys361Ter
NM_001287246.1:c.1083_1084del VV NP_001274175.1:p.Cys361Ter
NM_001287247.1:c.1083_1084del VV NP_001274176.1:p.Cys361Ter
NM_001287248.1:c.-209_-208del VV NP_001274177.1:p.=
XM_011521881.1:c.-99_-98del XP_011520183.1:p.=
XM_011521882.1:c.1083_1084del XP_011520184.1:p.Cys361Ter
XM_011521881.2:c.-99_-98del XP_011520183.1:p.=
XM_011521882.3:c.1083_1084del XP_011520184.1:p.Cys361Ter
NM_000057.4:c.1083_1084del VV MANE Preferred NP_000048.1:p.Cys361Ter
ENST00000355112.7:c.1083_1084del ENSP00000347232.3:p.Cys361Ter
ENST00000558599.1:n.344_345del
ENST00000559724.5:c.1083_1084del ENSP00000453359.1:p.Cys361Ter
ENST00000560509.5:c.1083_1084del ENSP00000454158.1:p.Cys361Ter