Canonical Allele Identifier: CA2570806242
Gene: BLK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11563992_11563993insAACTGA , CM000670.2:g.11563992_11563993insAACTGA GRCh38
NC_000008.10:g.11421501_11421502insAACTGA , CM000670.1:g.11421501_11421502insAACTGA GRCh37
NC_000008.9:g.11458910_11458911insAACTGA NCBI36
NG_023543.1:g.74981_74982insAACTGA
NG_023543.2:g.74981_74982insAACTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.1510_1511insAACTGA
ENST00000696154.1:c.*720_*721insAACTGA ENSP00000512445.1:n.*720_*721insAACTGA
ENST00000696155.1:n.286_287insAACTGA
ENST00000259089.9:c.1402_1403insAACTGA MANE Select ENSP00000259089.4:p.Val468delinsGluLeuIle
ENST00000645242.1:c.1189_1190insAACTGA ENSP00000494690.1:p.Val397delinsGluLeuIle
ENST00000259089.8:c.1402_1403insAACTGA ENSP00000259089.4:p.Val468delinsGluLeuIle
ENST00000526097.1:n.1342_1343insAACTGA
ENST00000529894.1:c.1189_1190insAACTGA ENSP00000433663.1:p.Val397delinsGluLeuIle
NM_001715.2:c.1402_1403insAACTGA NP_001706.2:p.Val468delinsGluLeuIle
XM_011543824.1:c.1480_1481insAACTGA XP_011542126.1:p.Val494delinsGluLeuIle
XM_011543825.1:c.1480_1481insAACTGA XP_011542127.1:p.Val494delinsGluLeuIle
XM_011543826.1:c.1480_1481insAACTGA XP_011542128.1:p.Val494delinsGluLeuIle
XM_011543827.1:c.1267_1268insAACTGA XP_011542129.1:p.Val423delinsGluLeuIle
NM_001330465.1:c.1189_1190insAACTGA NP_001317394.1:p.Val397delinsGluLeuIle
XM_011543825.3:c.1480_1481insAACTGA XP_011542127.1:p.Val494delinsGluLeuIle
NM_001715.3:c.1402_1403insAACTGA MANE Select NP_001706.2:p.Val468delinsGluLeuIle
NM_001330465.2:c.1189_1190insAACTGA NP_001317394.1:p.Val397delinsGluLeuIle