Canonical Allele Identifier: CA7738276

Gene: BLM

Linked Data

• ClinVar Variation Id: 405281
• ClinVar RCV Id: RCV000477306 ; RCV001030680 ; RCV002257685
• dbSNP Id: rs781221411
• ExAC: 15:91292816 A / AT
• gnomAD v2: 15-91292816-A-AT
• gnomAD v3: 15-90749586-A-AT
• gnomAD v4: 15-90749586-A-AT
• MyVariant Identifiers: chr15:g.91292818dupT (hg19) ; chr15:g.91292816_91292817insT (hg19) ; chr15:g.90749588dupT (hg38) ; chr15:g.90749586_90749587insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90749588dup , CM000677.2:g.90749588dup	GRCh38
NC_000015.9:g.91292818dup , CM000677.1:g.91292818dup	GRCh37
NC_000015.8:g.89093822dup	NCBI36
NG_007272.1:g.37217dup , LRG_20:g.37217dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.320dup MANE Select	ENSP00000347232.3:p.Leu107PhefsTer?
ENST00000648453.1:c.320dup	ENSP00000497646.1:p.Leu107PhefsTer?
ENST00000680772.1:c.320dup	ENSP00000506117.1:p.Leu107PhefsTer?
ENST00000681142.1:c.320dup	ENSP00000506682.1:p.Leu107PhefsTer?
ENST00000355112.7:c.320dup	ENSP00000347232.3:p.Leu107PhefsTer?
ENST00000559282.1:n.494dup
ENST00000559724.5:c.320dup	ENSP00000453359.1:p.Leu107PhefsTer?
ENST00000560509.5:c.320dup	ENSP00000454158.1:p.Leu107PhefsTer?
NM_000057.3:c.320dup	NP_000048.1:p.Leu107PhefsTer?
NM_001287246.1:c.320dup	NP_001274175.1:p.Leu107PhefsTer?
NM_001287247.1:c.320dup	NP_001274176.1:p.Leu107PhefsTer?
NM_001287248.1:c.-972dup	NP_001274177.1:n.-972dup
XM_011521882.1:c.320dup	XP_011520184.1:p.Leu107PhefsTer?
XM_011521882.3:c.320dup	XP_011520184.1:p.Leu107PhefsTer?
NM_000057.4:c.320dup MANE Select	NP_000048.1:p.Leu107PhefsTer?
NM_001287246.2:c.320dup	NP_001274175.1:p.Leu107PhefsTer?
NM_001287247.2:c.320dup	NP_001274176.1:p.Leu107PhefsTer?
NM_001287248.2:c.-972dup	NP_001274177.1:n.-972dup