Canonical Allele Identifier: CA579799155

Gene: BLK

Linked Data

• dbSNP Id: rs1563129090
• gnomAD v2: 8-11421971-T-TCTGCGCCCTGCGTGGACCCCGCCC
• gnomAD v3: 8-11564462-T-TCTGCGCCCTGCGTGGACCCCGCCC
• gnomAD v4: 8-11564462-T-TCTGCGCCCTGCGTGGACCCCGCCC
• MyVariant Identifiers: chr8:g.11421971_11421972insCTGCGCCCTGCGTGGACCCCGCCC (hg19) ; chr8:g.11564462_11564463insCTGCGCCCTGCGTGGACCCCGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564463_11564486dup , CM000670.2:g.11564463_11564486dup	GRCh38
NC_000008.10:g.11421972_11421995dup , CM000670.1:g.11421972_11421995dup	GRCh37
NC_000008.9:g.11459381_11459404dup	NCBI36
NG_023543.1:g.75452_75475dup
NG_023543.2:g.75452_75475dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1981_2004dup
ENST00000696154.1:c.*1191_*1214dup	ENSP00000512445.1:n.*1191_*1214dup
ENST00000259089.9:c.*355_*378dup MANE Select	ENSP00000259089.4:n.*355_*378dup
ENST00000645242.1:c.*355_*378dup	ENSP00000494690.1:n.*355_*378dup
ENST00000259089.8:c.*355_*378dup	ENSP00000259089.4:n.*355_*378dup
ENST00000526097.1:n.1813_1836dup
ENST00000529894.1:c.*355_*378dup	ENSP00000433663.1:n.*355_*378dup
NM_001715.2:c.*355_*378dup	NP_001706.2:n.*355_*378dup
XM_011543824.1:c.*355_*378dup	XP_011542126.1:n.*355_*378dup
XM_011543825.1:c.*355_*378dup	XP_011542127.1:n.*355_*378dup
XM_011543826.1:c.*355_*378dup	XP_011542128.1:n.*355_*378dup
XM_011543827.1:c.*355_*378dup	XP_011542129.1:n.*355_*378dup
NM_001330465.1:c.*355_*378dup	NP_001317394.1:n.*355_*378dup
XM_011543825.3:c.*355_*378dup	XP_011542127.1:n.*355_*378dup
NM_001715.3:c.*355_*378dup MANE Select	NP_001706.2:n.*355_*378dup
NM_001330465.2:c.*355_*378dup	NP_001317394.1:n.*355_*378dup