Canonical Allele Identifier: CA7738400

Gene: BLM

Linked Data

• ClinVar Variation Id: 2975209
• ClinVar RCV Id: RCV003830815 ; RCV003929364
• dbSNP Id: rs758366991
• ExAC: 15:91298024 AT / A
• gnomAD v2: 15-91298024-AT-A
• gnomAD v4: 15-90754794-AT-A
• MyVariant Identifiers: chr15:g.91298025del (hg19) ; chr15:g.90754795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754802del , CM000677.2:g.90754802del	GRCh38
NC_000015.9:g.91298032del , CM000677.1:g.91298032del	GRCh37
NC_000015.8:g.89099036del	NCBI36
NG_007272.1:g.42431del , LRG_20:g.42431del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.960-9del MANE Select	ENSP00000347232.3:n.960-9del
ENST00000648453.1:c.960-9del	ENSP00000497646.1:n.960-9del
ENST00000680772.1:c.960-9del	ENSP00000506117.1:n.960-9del
ENST00000681142.1:c.960-9del	ENSP00000506682.1:n.960-9del
ENST00000355112.7:c.960-9del	ENSP00000347232.3:n.960-9del
ENST00000558599.1:n.221-9del
ENST00000559724.5:c.960-9del	ENSP00000453359.1:n.960-9del
ENST00000560509.5:c.960-9del	ENSP00000454158.1:n.960-9del
NM_000057.3:c.960-9del	NP_000048.1:n.960-9del
NM_001287246.1:c.960-9del	NP_001274175.1:n.960-9del
NM_001287247.1:c.960-9del	NP_001274176.1:n.960-9del
NM_001287248.1:c.-332-9del	NP_001274177.1:n.-332-9del
XM_011521881.1:c.-222-9del	XP_011520183.1:n.-222-9del
XM_011521882.1:c.960-9del	XP_011520184.1:n.960-9del
XM_011521881.2:c.-222-9del	XP_011520183.1:n.-222-9del
XM_011521882.3:c.960-9del	XP_011520184.1:n.960-9del
NM_000057.4:c.960-9del MANE Select	NP_000048.1:n.960-9del
NM_001287246.2:c.960-9del	NP_001274175.1:n.960-9del
NM_001287247.2:c.960-9del	NP_001274176.1:n.960-9del
NM_001287248.2:c.-332-9del	NP_001274177.1:n.-332-9del