Canonical Allele Identifier: CA4629775

Gene: BLK

Linked Data

• dbSNP Id: rs761941756
• ExAC: 8:11405625 T / TCCTGAAGGG
• gnomAD v2: 8-11405625-T-TCCTGAAGGG
• gnomAD v4: 8-11548116-T-TCCTGAAGGG
• MyVariant Identifiers: chr8:g.11405625_11405626insCCTGAAGGG (hg19) ; chr8:g.11548116_11548117insCCTGAAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11548117_11548125dup , CM000670.2:g.11548117_11548125dup	GRCh38
NC_000008.10:g.11405626_11405634dup , CM000670.1:g.11405626_11405634dup	GRCh37
NC_000008.9:g.11443035_11443043dup	NCBI36
NG_023543.1:g.59106_59114dup
NG_023543.2:g.59106_59114dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.412_420dup
ENST00000696154.1:c.48_56dup	ENSP00000512445.1:p.Gly19_Thr20insLeuLysGly
ENST00000259089.9:c.261_269dup MANE Select	ENSP00000259089.4:p.Gly90_Thr91insLeuLysGly
ENST00000645242.1:c.48_56dup	ENSP00000494690.1:p.Gly19_Thr20insLeuLysGly
ENST00000259089.8:c.261_269dup	ENSP00000259089.4:p.Gly90_Thr91insLeuLysGly
ENST00000529894.1:c.48_56dup	ENSP00000433663.1:p.Gly19_Thr20insLeuLysGly
ENST00000533828.1:n.459_467dup
NM_001715.2:c.261_269dup	NP_001706.2:p.Gly90_Thr91insLeuLysGly
XM_011543824.1:c.261_269dup	XP_011542126.1:p.Gly90_Thr91insLeuLysGly
XM_011543825.1:c.261_269dup	XP_011542127.1:p.Gly90_Thr91insLeuLysGly
XM_011543826.1:c.261_269dup	XP_011542128.1:p.Gly90_Thr91insLeuLysGly
XM_011543827.1:c.48_56dup	XP_011542129.1:p.Gly19_Thr20insLeuLysGly
XM_011543828.1:c.261_269dup	XP_011542130.1:p.Gly90_Thr91insLeuLysGly
XM_011543829.1:c.261_269dup	XP_011542131.1:p.Gly90_Thr91insLeuLysGly
NM_001330465.1:c.48_56dup	NP_001317394.1:p.Gly19_Thr20insLeuLysGly
XM_011543825.3:c.261_269dup	XP_011542127.1:p.Gly90_Thr91insLeuLysGly
XM_011543828.3:c.261_269dup	XP_011542130.1:p.Gly90_Thr91insLeuLysGly
XM_011543829.3:c.261_269dup	XP_011542131.1:p.Gly90_Thr91insLeuLysGly
NM_001715.3:c.261_269dup MANE Select	NP_001706.2:p.Gly90_Thr91insLeuLysGly
NM_001330465.2:c.48_56dup	NP_001317394.1:p.Gly19_Thr20insLeuLysGly