Canonical Allele Identifier: CA7738906

Gene: BLM

Linked Data

• ClinVar Variation Id: 946395
• ClinVar RCV Id: RCV001217257
• dbSNP Id: rs765392662
• ExAC: 15:91334067 TATAATGAGTAA / T
• gnomAD v2: 15-91334067-TATAATGAGTAA-T
• gnomAD v3: 15-90790837-TATAATGAGTAA-T
• gnomAD v4: 15-90790837-TATAATGAGTAA-T
• MyVariant Identifiers: chr15:g.91334068_91334078del (hg19) ; chr15:g.90790838_90790848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790838_90790848del , CM000677.2:g.90790838_90790848del	GRCh38
NC_000015.9:g.91334068_91334078del , CM000677.1:g.91334068_91334078del	GRCh37
NC_000015.8:g.89135072_89135082del	NCBI36
NG_007272.1:g.78467_78477del , LRG_20:g.78467_78477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3013_3019+4del
ENST00000560559.2:n.1586_1592+4del
ENST00000648453.1:c.3013_3019+4del
ENST00000680772.1:c.3013_3019+4del
ENST00000681142.1:c.3013_3019+4del
ENST00000355112.7:c.3013_3019+4del
ENST00000559724.5:c.*1937_*1943+4del
ENST00000560136.5:n.1039_1045+4del
ENST00000560509.5:c.3013_3019+4del
ENST00000560559.1:n.550_556+4del
NM_000057.3:c.3013_3019+4del
NM_001287246.1:c.3013_3019+4del
NM_001287247.1:c.3013_3019+4del
NM_001287248.1:c.1888_1894+4del
XM_006720632.2:c.1051_1057+4del
XM_011521881.1:c.1699_1705+4del
XM_011521881.2:c.1699_1705+4del
NM_000057.4:c.3013_3019+4del
NM_001287246.2:c.3013_3019+4del
NM_001287247.2:c.3013_3019+4del
NM_001287248.2:c.1888_1894+4del