Canonical Allele Identifier: CA2686153696

Gene: BLK

Linked Data

• gnomAD v4: 8-11548048-GGCTCTGTATGACTACACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11548052_11548069del , CM000670.2:g.11548052_11548069del	GRCh38
NC_000008.10:g.11405561_11405578del , CM000670.1:g.11405561_11405578del	GRCh37
NC_000008.9:g.11442970_11442987del	NCBI36
NG_023543.1:g.59041_59058del
NG_023543.2:g.59041_59058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.347_364del
ENST00000696154.1:c.-18_-1del	ENSP00000512445.1:n.-18_-1del
ENST00000259089.9:c.196_213del MANE Select	ENSP00000259089.4:p.Leu66_Ala71del
ENST00000645242.1:c.-18_-1del	ENSP00000494690.1:n.-18_-1del
ENST00000259089.8:c.196_213del	ENSP00000259089.4:p.Leu66_Ala71del
ENST00000529894.1:c.-18_-1del	ENSP00000433663.1:n.-18_-1del
ENST00000533828.1:n.394_411del
NM_001715.2:c.196_213del	NP_001706.2:p.Leu66_Ala71del
XM_011543824.1:c.196_213del	XP_011542126.1:p.Leu66_Ala71del
XM_011543825.1:c.196_213del	XP_011542127.1:p.Leu66_Ala71del
XM_011543826.1:c.196_213del	XP_011542128.1:p.Leu66_Ala71del
XM_011543827.1:c.-18_-1del	XP_011542129.1:n.-18_-1del
XM_011543828.1:c.196_213del	XP_011542130.1:p.Leu66_Ala71del
XM_011543829.1:c.196_213del	XP_011542131.1:p.Leu66_Ala71del
NM_001330465.1:c.-18_-1del	NP_001317394.1:n.-18_-1del
XM_011543825.3:c.196_213del	XP_011542127.1:p.Leu66_Ala71del
XM_011543828.3:c.196_213del	XP_011542130.1:p.Leu66_Ala71del
XM_011543829.3:c.196_213del	XP_011542131.1:p.Leu66_Ala71del
NM_001715.3:c.196_213del MANE Select	NP_001706.2:p.Leu66_Ala71del
NM_001330465.2:c.-18_-1del	NP_001317394.1:n.-18_-1del