Canonical Allele Identifier: CA2559280341

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564009_11564010insAAGG , CM000670.2:g.11564009_11564010insAAGG	GRCh38
NC_000008.10:g.11421518_11421519insAAGG , CM000670.1:g.11421518_11421519insAAGG	GRCh37
NC_000008.9:g.11458927_11458928insAAGG	NCBI36
NG_023543.1:g.74998_74999insAAGG
NG_023543.2:g.74998_74999insAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1527_1528insAAGG
ENST00000696154.1:c.*737_*738insAAGG	ENSP00000512445.1:n.*737_*738insAAGG
ENST00000696155.1:n.303_304insAAGG
ENST00000259089.9:c.1419_1420insAAGG MANE Select	ENSP00000259089.4:p.Arg474LysfsTer?
ENST00000645242.1:c.1206_1207insAAGG	ENSP00000494690.1:p.Arg403LysfsTer?
ENST00000259089.8:c.1419_1420insAAGG	ENSP00000259089.4:p.Arg474LysfsTer?
ENST00000526097.1:n.1359_1360insAAGG
ENST00000529894.1:c.1206_1207insAAGG	ENSP00000433663.1:p.Arg403LysfsTer?
NM_001715.2:c.1419_1420insAAGG	NP_001706.2:p.Arg474LysfsTer?
XM_011543824.1:c.1497_1498insAAGG	XP_011542126.1:p.Arg500LysfsTer?
XM_011543825.1:c.1497_1498insAAGG	XP_011542127.1:p.Arg500LysfsTer?
XM_011543826.1:c.1497_1498insAAGG	XP_011542128.1:p.Arg500LysfsTer?
XM_011543827.1:c.1284_1285insAAGG	XP_011542129.1:p.Arg429LysfsTer?
NM_001330465.1:c.1206_1207insAAGG	NP_001317394.1:p.Arg403LysfsTer?
XM_011543825.3:c.1497_1498insAAGG	XP_011542127.1:p.Arg500LysfsTer?
NM_001715.3:c.1419_1420insAAGG MANE Select	NP_001706.2:p.Arg474LysfsTer?
NM_001330465.2:c.1206_1207insAAGG	NP_001317394.1:p.Arg403LysfsTer?