Canonical Allele Identifier: CA2686158475

Gene: BLK

Linked Data

• gnomAD v4: 8-11563989-GGCGTCATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563992_11563999del , CM000670.2:g.11563992_11563999del	GRCh38
NC_000008.10:g.11421501_11421508del , CM000670.1:g.11421501_11421508del	GRCh37
NC_000008.9:g.11458910_11458917del	NCBI36
NG_023543.1:g.74981_74988del
NG_023543.2:g.74981_74988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1510_1517del
ENST00000696154.1:c.*720_*727del	ENSP00000512445.1:n.*720_*727del
ENST00000696155.1:n.286_293del
ENST00000259089.9:c.1402_1409del MANE Select	ENSP00000259089.4:p.Val468ArgfsTer?
ENST00000645242.1:c.1189_1196del	ENSP00000494690.1:p.Val397ArgfsTer?
ENST00000259089.8:c.1402_1409del	ENSP00000259089.4:p.Val468ArgfsTer?
ENST00000526097.1:n.1342_1349del
ENST00000529894.1:c.1189_1196del	ENSP00000433663.1:p.Val397ArgfsTer?
NM_001715.2:c.1402_1409del	NP_001706.2:p.Val468ArgfsTer?
XM_011543824.1:c.1480_1487del	XP_011542126.1:p.Val494ArgfsTer?
XM_011543825.1:c.1480_1487del	XP_011542127.1:p.Val494ArgfsTer?
XM_011543826.1:c.1480_1487del	XP_011542128.1:p.Val494ArgfsTer?
XM_011543827.1:c.1267_1274del	XP_011542129.1:p.Val423ArgfsTer?
NM_001330465.1:c.1189_1196del	NP_001317394.1:p.Val397ArgfsTer?
XM_011543825.3:c.1480_1487del	XP_011542127.1:p.Val494ArgfsTer?
NM_001715.3:c.1402_1409del MANE Select	NP_001706.2:p.Val468ArgfsTer?
NM_001330465.2:c.1189_1196del	NP_001317394.1:p.Val397ArgfsTer?