Canonical Allele Identifier: CA16043733
Community Standard Title: NM_182978.4(GNAL):c.462_463del (p.Lys155AsnfsTer9)
Gene: GNAL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.11753640_11753641del , CM000680.2:g.11753640_11753641del GRCh38
NC_000018.9:g.11753639_11753640del , CM000680.1:g.11753639_11753640del GRCh37
NC_000018.8:g.11743639_11743640del NCBI36
NG_033866.1:g.69626_69627del

Transcript Alleles

HGVS Amino-acid Change
NM_182978.4:c.462_463del MANE Select NP_892023.1:p.Lys155AsnfsTer9
ENST00000334049.11:c.462_463del MANE Select ENSP00000334051.5:p.Lys155AsnfsTer9
NM_001369387.1:c.231_232del MANE Plus Clinical NP_001356316.1:p.Lys78AsnfsTer9
ENST00000423027.8:c.231_232del MANE Plus Clinical ENSP00000408489.2:p.Lys78AsnfsTer9
NM_001142339.2:c.231_232del NP_001135811.1:p.Lys78AsnfsTer9
NM_001142339.3:c.231_232del NP_001135811.1:p.Lys78AsnfsTer9
NM_001261443.1:c.231_232del NP_001248372.1:p.Lys78AsnfsTer9
NM_001261443.2:c.231_232del NP_001248372.1:p.Lys78AsnfsTer9
NM_182978.3:c.462_463del NP_892023.1:p.Lys155AsnfsTer9
ENST00000269162.9:c.231_232del ENSP00000269162.4:p.Lys78AsnfsTer9
ENST00000334049.10:c.462_463del ENSP00000334051.5:p.Lys155AsnfsTer9
ENST00000423027.7:c.231_232del ENSP00000408489.2:p.Lys78AsnfsTer9
ENST00000535121.5:c.231_232del ENSP00000439023.1:p.Lys78AsnfsTer9
ENST00000585642.5:c.48_49del ENSP00000467345.1:p.Lys17AsnfsTer9
ENST00000590228.1:c.-58_-57del ENSP00000467709.1:n.-58_-57del
ENST00000590972.1:n.55_56del
XM_006722323.2:c.231_232del XP_006722386.1:p.Lys78AsnfsTer9
XM_006722324.1:c.462_463del XP_006722387.1:p.Lys155AsnfsTer9
XM_006722324.3:c.462_463del XP_006722387.1:p.Lys155AsnfsTer9
XM_011525654.1:c.231_232del XP_011523956.1:p.Lys78AsnfsTer9
XM_024451164.1:c.231_232del XP_024306932.1:p.Lys78AsnfsTer9
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