Canonical Allele Identifier: CA658824100

Gene: BLM

Linked Data

• ClinVar Variation Id: 556531
• ClinVar RCV Id: RCV000672550
• dbSNP Id: rs1555423119
• MyVariant Identifiers: chr15:g.90790841_90790842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790841_90790842del , CM000677.2:g.90790841_90790842del	GRCh38
NC_000015.9:g.91334071_91334072del , CM000677.1:g.91334071_91334072del	GRCh37
NC_000015.8:g.89135075_89135076del	NCBI36
NG_007272.1:g.78470_78471del , LRG_20:g.78470_78471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3016_3017del MANE Select	ENSP00000347232.3:p.Met1006AspfsTer16
ENST00000560559.2:n.1589_1590del
ENST00000648453.1:c.3016_3017del	ENSP00000497646.1:p.Met1006AspfsTer16
ENST00000680772.1:c.3016_3017del	ENSP00000506117.1:p.Met1006AspfsTer16
ENST00000681142.1:c.3016_3017del	ENSP00000506682.1:p.Met1006AspfsTer16
ENST00000355112.7:c.3016_3017del	ENSP00000347232.3:p.Met1006AspfsTer16
ENST00000559724.5:c.*1940_*1941del	ENSP00000453359.1:n.*1940_*1941del
ENST00000560136.5:n.1042_1043del
ENST00000560509.5:c.3016_3017del	ENSP00000454158.1:p.Met1006AspfsTer16
ENST00000560559.1:n.553_554del
NM_000057.3:c.3016_3017del	NP_000048.1:p.Met1006AspfsTer16
NM_001287246.1:c.3016_3017del	NP_001274175.1:p.Met1006AspfsTer16
NM_001287247.1:c.3016_3017del	NP_001274176.1:p.Met1006AspfsTer16
NM_001287248.1:c.1891_1892del	NP_001274177.1:p.Met631AspfsTer16
XM_006720632.2:c.1054_1055del	XP_006720695.1:p.Met352AspfsTer16
XM_011521881.1:c.1702_1703del	XP_011520183.1:p.Met568AspfsTer16
XM_011521881.2:c.1702_1703del	XP_011520183.1:p.Met568AspfsTer16
NM_000057.4:c.3016_3017del MANE Select	NP_000048.1:p.Met1006AspfsTer16
NM_001287246.2:c.3016_3017del	NP_001274175.1:p.Met1006AspfsTer16
NM_001287247.2:c.3016_3017del	NP_001274176.1:p.Met1006AspfsTer16
NM_001287248.2:c.1891_1892del	NP_001274177.1:p.Met631AspfsTer16