Canonical Allele Identifier: CA250415
Gene: GMNN HGNC NCBI

Linked Data

ClinVar Variation Id: 204000
dbSNP Id: rs864309487

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24777281_24777284del , CM000668.2:g.24777281_24777284del GRCh38
NC_000006.11:g.24777509_24777512del , CM000668.1:g.24777509_24777512del GRCh37
NC_000006.10:g.24885488_24885491del NCBI36
NG_030440.1:g.7351_7354del

Transcript Alleles

HGVS Amino-acid change
ENST00000230056.8:c.35_38del MANE Select ENSP00000230056.3:p.Ile12LysfsTer4
ENST00000230056.7:c.35_38del ENSP00000230056.3:p.Ile12LysfsTer4
ENST00000356509.7:c.35_38del ENSP00000348902.3:p.Ile12LysfsTer4
ENST00000378054.6:c.35_38del ENSP00000367293.2:p.Ile12LysfsTer4
ENST00000378059.3:c.35_38del ENSP00000367298.3:p.Ile12LysfsTer4
ENST00000468943.1:n.224_227del
ENST00000476555.5:c.35_38del ENSP00000419584.1:p.Ile12LysfsTer4
ENST00000620958.4:c.35_38del ENSP00000477506.1:p.Ile12LysfsTer4
NM_001251989.1:c.35_38del NP_001238918.1:p.Ile12LysfsTer4
NM_001251990.1:c.35_38del NP_001238919.1:p.Ile12LysfsTer4
NM_001251991.1:c.35_38del NP_001238920.1:p.Ile12LysfsTer4
NM_015895.4:c.35_38del NP_056979.1:p.Ile12LysfsTer4
XM_005249159.1:c.35_38del XP_005249216.1:p.Ile12LysfsTer4
XM_005249159.2:c.35_38del XP_005249216.1:p.Ile12LysfsTer4
NM_015895.5:c.35_38del MANE Select NP_056979.1:p.Ile12LysfsTer4
NM_001251989.2:c.35_38del NP_001238918.1:p.Ile12LysfsTer4
NM_001251990.2:c.35_38del NP_001238919.1:p.Ile12LysfsTer4