Canonical Allele Identifier: CA972701208

Gene: BLM

Linked Data

• gnomAD v3: 15-90804427-A-T
• gnomAD v4: 15-90804427-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90804427A>T , CM000677.2:g.90804427A>T	GRCh38
NC_000015.9:g.91347657A>T , CM000677.1:g.91347657A>T	GRCh37
NC_000015.8:g.89148661A>T	NCBI36
NG_007272.1:g.92056A>T , LRG_20:g.92056A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3751+68A>T MANE Select	ENSP00000347232.3:n.3751+68A>T
ENST00000560559.2:n.2324+68A>T
ENST00000648453.1:c.3751+68A>T	ENSP00000497646.1:n.3751+68A>T
ENST00000680772.1:c.3751+68A>T	ENSP00000506117.1:n.3751+68A>T
ENST00000681142.1:c.3751+68A>T	ENSP00000506682.1:n.3751+68A>T
ENST00000355112.7:c.3751+68A>T	ENSP00000347232.3:n.3751+68A>T
ENST00000558825.5:n.1098+68A>T
ENST00000559724.5:c.*2675+68A>T	ENSP00000453359.1:n.*2675+68A>T
ENST00000560136.5:n.1777+68A>T
ENST00000560509.5:c.3359-4710A>T	ENSP00000454158.1:n.3359-4710A>T
NM_000057.3:c.3751+68A>T	NP_000048.1:n.3751+68A>T
NM_001287246.1:c.3751+68A>T	NP_001274175.1:n.3751+68A>T
NM_001287247.1:c.3359-4710A>T	NP_001274176.1:n.3359-4710A>T
NM_001287248.1:c.2626+68A>T	NP_001274177.1:n.2626+68A>T
XM_006720632.2:c.1789+68A>T	XP_006720695.1:n.1789+68A>T
XM_011521881.1:c.2437+68A>T	XP_011520183.1:n.2437+68A>T
XM_011521881.2:c.2437+68A>T	XP_011520183.1:n.2437+68A>T
NM_000057.4:c.3751+68A>T MANE Select	NP_000048.1:n.3751+68A>T
NM_001287246.2:c.3751+68A>T	NP_001274175.1:n.3751+68A>T
NM_001287247.2:c.3359-4710A>T	NP_001274176.1:n.3359-4710A>T
NM_001287248.2:c.2626+68A>T	NP_001274177.1:n.2626+68A>T