Canonical Allele Identifier: CA2497136945
Gene: GMNN HGNC NCBI

Linked Data

dbSNP Id: rs1780100937

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24777366del , CM000668.2:g.24777366del GRCh38
NC_000006.11:g.24777594del , CM000668.1:g.24777594del GRCh37
NC_000006.10:g.24885573del NCBI36
NG_030440.1:g.7436del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230056.8:c.51+69del MANE Select ENSP00000230056.3:n.51+69del
ENST00000230056.7:c.51+69del ENSP00000230056.3:n.51+69del
ENST00000356509.7:c.51+69del ENSP00000348902.3:n.51+69del
ENST00000378054.6:c.51+69del ENSP00000367293.2:n.51+69del
ENST00000378059.3:c.51+69del ENSP00000367298.3:n.51+69del
ENST00000468943.1:n.309del
ENST00000476555.5:c.51+69del ENSP00000419584.1:n.51+69del
ENST00000620958.4:c.51+69del ENSP00000477506.1:n.51+69del
NM_001251989.1:c.51+69del NP_001238918.1:n.51+69del
NM_001251990.1:c.51+69del NP_001238919.1:n.51+69del
NM_001251991.1:c.51+69del NP_001238920.1:n.51+69del
NM_015895.4:c.51+69del NP_056979.1:n.51+69del
XM_005249159.1:c.51+69del XP_005249216.1:n.51+69del
XM_005249159.2:c.51+69del XP_005249216.1:n.51+69del
NM_015895.5:c.51+69del MANE Select NP_056979.1:n.51+69del
NM_001251989.2:c.51+69del NP_001238918.1:n.51+69del
NM_001251990.2:c.51+69del NP_001238919.1:n.51+69del