Canonical Allele Identifier: CA912994807

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91354459_91354460del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811229_90811230del , CM000677.2:g.90811229_90811230del	GRCh38
NC_000015.9:g.91354459_91354460del , CM000677.1:g.91354459_91354460del	GRCh37
NC_000015.8:g.89155463_89155464del	NCBI36
NG_007272.1:g.98858_98859del , LRG_20:g.98858_98859del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3899_3900del MANE Select	ENSP00000347232.3:p.Ser1300ThrfsTer13
ENST00000560559.2:n.2472_2473del
ENST00000648453.1:c.3899_3900del	ENSP00000497646.1:p.Ser1300ThrfsTer13
ENST00000680772.1:c.3899_3900del	ENSP00000506117.1:p.Ser1300ThrfsTer13
ENST00000681142.1:c.3899_3900del	ENSP00000506682.1:p.Ser1300ThrfsTer13
ENST00000355112.7:c.3899_3900del	ENSP00000347232.3:p.Ser1300ThrfsTer13
ENST00000558825.5:n.1246_1247del
ENST00000559724.5:c.*2823_*2824del	ENSP00000453359.1:n.*2823_*2824del
ENST00000560136.5:n.1925_1926del
ENST00000560509.5:c.3506_3507del	ENSP00000454158.1:p.Ser1169ThrfsTer13
ENST00000560821.1:n.319_320del
NM_000057.3:c.3899_3900del	NP_000048.1:p.Ser1300ThrfsTer13
NM_001287246.1:c.3899_3900del	NP_001274175.1:p.Ser1300ThrfsTer13
NM_001287247.1:c.3506_3507del	NP_001274176.1:p.Ser1169ThrfsTer13
NM_001287248.1:c.2774_2775del	NP_001274177.1:p.Ser925ThrfsTer13
XM_006720632.2:c.1937_1938del	XP_006720695.1:p.Ser646ThrfsTer13
XM_011521881.1:c.2585_2586del	XP_011520183.1:p.Ser862ThrfsTer13
XM_011521881.2:c.2585_2586del	XP_011520183.1:p.Ser862ThrfsTer13
NM_000057.4:c.3899_3900del MANE Select	NP_000048.1:p.Ser1300ThrfsTer13
NM_001287246.2:c.3899_3900del	NP_001274175.1:p.Ser1300ThrfsTer13
NM_001287247.2:c.3506_3507del	NP_001274176.1:p.Ser1169ThrfsTer13
NM_001287248.2:c.2774_2775del	NP_001274177.1:p.Ser925ThrfsTer13