Canonical Allele Identifier: CA912994809

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91354515_91354516del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811286_90811287del , CM000677.2:g.90811286_90811287del	GRCh38
NC_000015.9:g.91354516_91354517del , CM000677.1:g.91354516_91354517del	GRCh37
NC_000015.8:g.89155520_89155521del	NCBI36
NG_007272.1:g.98915_98916del , LRG_20:g.98915_98916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3956_3957del MANE Select	ENSP00000347232.3:p.Ile1319ThrfsTer10
ENST00000560559.2:n.2529_2530del
ENST00000648453.1:c.3956_3957del	ENSP00000497646.1:p.Ile1319ThrfsTer10
ENST00000680772.1:c.3956_3957del	ENSP00000506117.1:p.Ile1319ThrfsTer10
ENST00000681142.1:c.3956_3957del	ENSP00000506682.1:p.Ile1319ThrfsTer10
ENST00000355112.7:c.3956_3957del	ENSP00000347232.3:p.Ile1319ThrfsTer10
ENST00000558825.5:n.1303_1304del
ENST00000559724.5:c.*2880_*2881del	ENSP00000453359.1:n.*2880_*2881del
ENST00000560136.5:n.1982_1983del
ENST00000560509.5:c.3563_3564del	ENSP00000454158.1:p.Ile1188ThrfsTer10
ENST00000560821.1:n.376_377del
NM_000057.3:c.3956_3957del	NP_000048.1:p.Ile1319ThrfsTer10
NM_001287246.1:c.3956_3957del	NP_001274175.1:p.Ile1319ThrfsTer10
NM_001287247.1:c.3563_3564del	NP_001274176.1:p.Ile1188ThrfsTer10
NM_001287248.1:c.2831_2832del	NP_001274177.1:p.Ile944ThrfsTer10
XM_006720632.2:c.1994_1995del	XP_006720695.1:p.Ile665ThrfsTer10
XM_011521881.1:c.2642_2643del	XP_011520183.1:p.Ile881ThrfsTer10
XM_011521881.2:c.2642_2643del	XP_011520183.1:p.Ile881ThrfsTer10
NM_000057.4:c.3956_3957del MANE Select	NP_000048.1:p.Ile1319ThrfsTer10
NM_001287246.2:c.3956_3957del	NP_001274175.1:p.Ile1319ThrfsTer10
NM_001287247.2:c.3563_3564del	NP_001274176.1:p.Ile1188ThrfsTer10
NM_001287248.2:c.2831_2832del	NP_001274177.1:p.Ile944ThrfsTer10