Canonical Allele Identifier: CA1763963742

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564059_11564060delinsTG , CM000670.2:g.11564059_11564060delinsTG	GRCh38
NC_000008.10:g.11421568_11421569delinsTG , CM000670.1:g.11421568_11421569delinsTG	GRCh37
NC_000008.9:g.11458977_11458978delinsTG	NCBI36
NG_023543.1:g.75048_75049delinsTG
NG_023543.2:g.75048_75049delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1577_1578delinsTG
ENST00000696154.1:c.*787_*788delinsTG	ENSP00000512445.1:n.*787_*788delinsTG
ENST00000696155.1:n.353_354delinsTG
ENST00000259089.9:c.1469_1470delinsTG MANE Select	ENSP00000259089.4:p.Leu490=
ENST00000645242.1:c.1256_1257delinsTG	ENSP00000494690.1:p.Leu419=
ENST00000259089.8:c.1469_1470delinsTG	ENSP00000259089.4:p.Leu490=
ENST00000526097.1:n.1409_1410delinsTG
ENST00000529894.1:c.1256_1257delinsTG	ENSP00000433663.1:p.Leu419=
NM_001715.2:c.1469_1470delinsTG	NP_001706.2:p.Leu490=
XM_011543824.1:c.1547_1548delinsTG	XP_011542126.1:p.Leu516=
XM_011543825.1:c.1547_1548delinsTG	XP_011542127.1:p.Leu516=
XM_011543826.1:c.1547_1548delinsTG	XP_011542128.1:p.Leu516=
XM_011543827.1:c.1334_1335delinsTG	XP_011542129.1:p.Leu445=
NM_001330465.1:c.1256_1257delinsTG	NP_001317394.1:p.Leu419=
XM_011543825.3:c.1547_1548delinsTG	XP_011542127.1:p.Leu516=
NM_001715.3:c.1469_1470delinsTG MANE Select	NP_001706.2:p.Leu490=
NM_001330465.2:c.1256_1257delinsTG	NP_001317394.1:p.Leu419=