Canonical Allele Identifier: CA7738700

Gene: BLM

Linked Data

• ClinVar Variation Id: 803134
• ClinVar RCV Id: RCV000989391
• dbSNP Id: rs780538610
• ExAC: 15:91310158 A / ATTC
• gnomAD v2: 15-91310158-A-ATTC
• gnomAD v3: 15-90766928-A-ATTC
• gnomAD v4: 15-90766928-A-ATTC
• MyVariant Identifiers: chr15:g.91310158_91310159insTTC (hg19) ; chr15:g.90766928_90766929insTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766928_90766929insTTC , CM000677.2:g.90766928_90766929insTTC	GRCh38
NC_000015.9:g.91310158_91310159insTTC , CM000677.1:g.91310158_91310159insTTC	GRCh37
NC_000015.8:g.89111162_89111163insTTC	NCBI36
NG_007272.1:g.54557_54558insTTC , LRG_20:g.54557_54558insTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.2212_2213insTTC MANE Select	ENSP00000347232.3:p.Thr738delinsIlePro
ENST00000648453.1:c.2212_2213insTTC	ENSP00000497646.1:p.Thr738delinsIlePro
ENST00000680772.1:c.2212_2213insTTC	ENSP00000506117.1:p.Thr738delinsIlePro
ENST00000681142.1:c.2212_2213insTTC	ENSP00000506682.1:p.Thr738delinsIlePro
ENST00000355112.7:c.2212_2213insTTC	ENSP00000347232.3:p.Thr738delinsIlePro
ENST00000559426.5:n.389_390insTTC
ENST00000559724.5:c.*1136_*1137insTTC	ENSP00000453359.1:n.*1136_*1137insTTC
ENST00000560136.5:n.238_239insTTC
ENST00000560509.5:c.2212_2213insTTC	ENSP00000454158.1:p.Thr738delinsIlePro
NM_000057.3:c.2212_2213insTTC	NP_000048.1:p.Thr738delinsIlePro
NM_001287246.1:c.2212_2213insTTC	NP_001274175.1:p.Thr738delinsIlePro
NM_001287247.1:c.2212_2213insTTC	NP_001274176.1:p.Thr738delinsIlePro
NM_001287248.1:c.1087_1088insTTC	NP_001274177.1:p.Thr363delinsIlePro
XM_006720632.2:c.250_251insTTC	XP_006720695.1:p.Thr84delinsIlePro
XM_011521881.1:c.898_899insTTC	XP_011520183.1:p.Thr300delinsIlePro
XM_011521882.1:c.2212_2213insTTC	XP_011520184.1:p.Thr738delinsIlePro
XM_011521881.2:c.898_899insTTC	XP_011520183.1:p.Thr300delinsIlePro
XM_011521882.3:c.2212_2213insTTC	XP_011520184.1:p.Thr738delinsIlePro
NM_000057.4:c.2212_2213insTTC MANE Select	NP_000048.1:p.Thr738delinsIlePro
NM_001287246.2:c.2212_2213insTTC	NP_001274175.1:p.Thr738delinsIlePro
NM_001287247.2:c.2212_2213insTTC	NP_001274176.1:p.Thr738delinsIlePro
NM_001287248.2:c.1087_1088insTTC	NP_001274177.1:p.Thr363delinsIlePro