Canonical Allele Identifier: CA2237043395
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358248_81358249delinsGT , CM000678.2:g.81358248_81358249delinsGT GRCh38
NC_000016.9:g.81391853_81391854delinsGT , CM000678.1:g.81391853_81391854delinsGT GRCh37
NC_000016.8:g.79949354_79949355delinsGT NCBI36
NG_009007.1:g.48283_48284delinsGT , LRG_242:g.48283_48284delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+317_*681+318delinsGT ENSP00000498114.1:n.*681+317_*681+318delinsGT
ENST00000648994.2:c.973+317_973+318delinsGT MANE Select ENSP00000497351.1:n.973+317_973+318delinsGT
ENST00000650388.1:c.507+317_507+318delinsGT ENSP00000498081.1:n.507+317_507+318delinsGT
ENST00000568107.2:c.973+317_973+318delinsGT ENSP00000476795.1:n.973+317_973+318delinsGT
NM_022041.3:c.973+317_973+318delinsGT , LRG_242t1:c.973+317_973+318delinsGT NP_071324.1:n.973+317_973+318delinsGT
XM_017023734.1:c.334+317_334+318delinsGT XP_016879223.1:n.334+317_334+318delinsGT
NM_001377486.1:c.334+317_334+318delinsGT NP_001364415.1:n.334+317_334+318delinsGT
NM_022041.4:c.973+317_973+318delinsGT MANE Select NP_071324.1:n.973+317_973+318delinsGT