Canonical Allele Identifier: CA2577853795
Gene: GNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193375_50193376del , CM000665.2:g.50193375_50193376del GRCh38
NC_000003.11:g.50230808_50230809del , CM000665.1:g.50230808_50230809del GRCh37
NC_000003.10:g.50205812_50205813del NCBI36
NG_009831.1:g.6766_6767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.260_261del MANE Select ENSP00000232461.3:p.Leu87GlnfsTer?
ENST00000232461.7:c.260_261del ENSP00000232461.3:p.Leu87GlnfsTer?
ENST00000433068.5:c.260_261del ENSP00000387555.1:p.Leu87GlnfsTer?
ENST00000440836.1:c.116_117del ENSP00000403537.1:p.Leu39GlnfsTer?
NM_000172.3:c.260_261del NP_000163.2:p.Leu87GlnfsTer?
NM_144499.2:c.260_261del NP_653082.1:p.Leu87GlnfsTer?
XM_011533595.1:c.116_117del XP_011531897.1:p.Leu39GlnfsTer?
XM_011533596.1:c.116_117del XP_011531898.1:p.Leu39GlnfsTer?
XR_940416.1:n.540_541del
NM_000172.4:c.260_261del NP_000163.2:p.Leu87GlnfsTer?
NM_144499.3:c.260_261del MANE Select NP_653082.1:p.Leu87GlnfsTer?