Canonical Allele Identifier: CA2237043092
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1910552123

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358102del , CM000678.2:g.81358102del GRCh38
NC_000016.9:g.81391707del , CM000678.1:g.81391707del GRCh37
NC_000016.8:g.79949208del NCBI36
NG_009007.1:g.48137del , LRG_242:g.48137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+171del ENSP00000498114.1:n.*681+171del
ENST00000648994.2:c.973+171del MANE Select ENSP00000497351.1:n.973+171del
ENST00000650388.1:c.507+171del ENSP00000498081.1:n.507+171del
ENST00000568107.2:c.973+171del ENSP00000476795.1:n.973+171del
NM_022041.3:c.973+171del , LRG_242t1:c.973+171del NP_071324.1:n.973+171del
XM_017023734.1:c.334+171del XP_016879223.1:n.334+171del
NM_001377486.1:c.334+171del NP_001364415.1:n.334+171del
NM_022041.4:c.973+171del MANE Select NP_071324.1:n.973+171del