Canonical Allele Identifier: CA2686158767

Gene: BLK

Linked Data

• gnomAD v4: 8-11564437-CCCCCGTGCTGGCCGCGTCCCCGCCTCTGCGCCCTGCGTGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564443_11564483del , CM000670.2:g.11564443_11564483del	GRCh38
NC_000008.10:g.11421952_11421992del , CM000670.1:g.11421952_11421992del	GRCh37
NC_000008.9:g.11459361_11459401del	NCBI36
NG_023543.1:g.75432_75472del
NG_023543.2:g.75432_75472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1961_2001del
ENST00000696154.1:c.*1171_*1211del	ENSP00000512445.1:n.*1171_*1211del
ENST00000259089.9:c.*335_*375del MANE Select	ENSP00000259089.4:n.*335_*375del
ENST00000645242.1:c.*335_*375del	ENSP00000494690.1:n.*335_*375del
ENST00000259089.8:c.*335_*375del	ENSP00000259089.4:n.*335_*375del
ENST00000526097.1:n.1793_1833del
ENST00000529894.1:c.*335_*375del	ENSP00000433663.1:n.*335_*375del
NM_001715.2:c.*335_*375del	NP_001706.2:n.*335_*375del
XM_011543824.1:c.*335_*375del	XP_011542126.1:n.*335_*375del
XM_011543825.1:c.*335_*375del	XP_011542127.1:n.*335_*375del
XM_011543826.1:c.*335_*375del	XP_011542128.1:n.*335_*375del
XM_011543827.1:c.*335_*375del	XP_011542129.1:n.*335_*375del
NM_001330465.1:c.*335_*375del	NP_001317394.1:n.*335_*375del
XM_011543825.3:c.*335_*375del	XP_011542127.1:n.*335_*375del
NM_001715.3:c.*335_*375del MANE Select	NP_001706.2:n.*335_*375del
NM_001330465.2:c.*335_*375del	NP_001317394.1:n.*335_*375del