Canonical Allele Identifier: CA4630508

Gene: BLK

Linked Data

• dbSNP Id: rs773907296
• ExAC: 8:11421482 GCC / G
• gnomAD v2: 8-11421482-GCC-G
• gnomAD v3: 8-11563973-GCC-G
• gnomAD v4: 8-11563973-GCC-G
• MyVariant Identifiers: chr8:g.11421483_11421484del (hg19) ; chr8:g.11563974_11563975del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563975_11563976del , CM000670.2:g.11563975_11563976del	GRCh38
NC_000008.10:g.11421484_11421485del , CM000670.1:g.11421484_11421485del	GRCh37
NC_000008.9:g.11458893_11458894del	NCBI36
NG_023543.1:g.74964_74965del
NG_023543.2:g.74964_74965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1493_1494del
ENST00000696154.1:c.*703_*704del	ENSP00000512445.1:n.*703_*704del
ENST00000696155.1:n.269_270del
ENST00000259089.9:c.1385_1386del MANE Select	ENSP00000259089.4:p.Pro462ArgfsTer?
ENST00000645242.1:c.1172_1173del	ENSP00000494690.1:p.Pro391ArgfsTer?
ENST00000259089.8:c.1385_1386del	ENSP00000259089.4:p.Pro462ArgfsTer?
ENST00000526097.1:n.1325_1326del
ENST00000529894.1:c.1172_1173del	ENSP00000433663.1:p.Pro391ArgfsTer?
NM_001715.2:c.1385_1386del	NP_001706.2:p.Pro462ArgfsTer?
XM_011543824.1:c.1463_1464del	XP_011542126.1:p.Pro488ArgfsTer?
XM_011543825.1:c.1463_1464del	XP_011542127.1:p.Pro488ArgfsTer?
XM_011543826.1:c.1463_1464del	XP_011542128.1:p.Pro488ArgfsTer?
XM_011543827.1:c.1250_1251del	XP_011542129.1:p.Pro417ArgfsTer?
NM_001330465.1:c.1172_1173del	NP_001317394.1:p.Pro391ArgfsTer?
XM_011543825.3:c.1463_1464del	XP_011542127.1:p.Pro488ArgfsTer?
NM_001715.3:c.1385_1386del MANE Select	NP_001706.2:p.Pro462ArgfsTer?
NM_001330465.2:c.1172_1173del	NP_001317394.1:p.Pro391ArgfsTer?