Canonical Allele Identifier: CA2740096774

Gene: BLM

Linked Data

• ClinVar Variation Id: 2955260
• ClinVar RCV Id: RCV003818435

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794249_90794250delinsAT , CM000677.2:g.90794249_90794250delinsAT	GRCh38
NC_000015.9:g.91337479_91337480delinsAT , CM000677.1:g.91337479_91337480delinsAT	GRCh37
NC_000015.8:g.89138483_89138484delinsAT	NCBI36
NG_007272.1:g.81878_81879delinsAT , LRG_20:g.81878_81879delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.3102_3103delinsAT MANE Select	ENSP00000347232.3:p.Thr1035Ter
ENST00000560559.2:n.1675_1676delinsAT
ENST00000648453.1:c.3102_3103delinsAT	ENSP00000497646.1:p.Thr1035Ter
ENST00000680772.1:c.3102_3103delinsAT	ENSP00000506117.1:p.Thr1035Ter
ENST00000681142.1:c.3102_3103delinsAT	ENSP00000506682.1:p.Thr1035Ter
ENST00000355112.7:c.3102_3103delinsAT	ENSP00000347232.3:p.Thr1035Ter
ENST00000558825.5:n.449_450delinsAT
ENST00000559724.5:c.*2026_*2027delinsAT	ENSP00000453359.1:n.*2026_*2027delinsAT
ENST00000560136.5:n.1128_1129delinsAT
ENST00000560509.5:c.3102_3103delinsAT	ENSP00000454158.1:p.Thr1035Ter
ENST00000560559.1:n.639_640delinsAT
NM_000057.3:c.3102_3103delinsAT	NP_000048.1:p.Thr1035Ter
NM_001287246.1:c.3102_3103delinsAT	NP_001274175.1:p.Thr1035Ter
NM_001287247.1:c.3102_3103delinsAT	NP_001274176.1:p.Thr1035Ter
NM_001287248.1:c.1977_1978delinsAT	NP_001274177.1:p.Thr660Ter
XM_006720632.2:c.1140_1141delinsAT	XP_006720695.1:p.Thr381Ter
XM_011521881.1:c.1788_1789delinsAT	XP_011520183.1:p.Thr597Ter
XM_011521881.2:c.1788_1789delinsAT	XP_011520183.1:p.Thr597Ter
NM_000057.4:c.3102_3103delinsAT MANE Select	NP_000048.1:p.Thr1035Ter
NM_001287246.2:c.3102_3103delinsAT	NP_001274175.1:p.Thr1035Ter
NM_001287247.2:c.3102_3103delinsAT	NP_001274176.1:p.Thr1035Ter
NM_001287248.2:c.1977_1978delinsAT	NP_001274177.1:p.Thr660Ter