Canonical Allele Identifier: CA2634488466
Gene: GAN HGNC NCBI

Linked Data

gnomAD v4: 16-81358073-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358074dup , CM000678.2:g.81358074dup GRCh38
NC_000016.9:g.81391679dup , CM000678.1:g.81391679dup GRCh37
NC_000016.8:g.79949180dup NCBI36
NG_009007.1:g.48109dup , LRG_242:g.48109dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+143dup ENSP00000498114.1:n.*681+143dup
ENST00000648994.2:c.973+143dup MANE Select ENSP00000497351.1:n.973+143dup
ENST00000650388.1:c.507+143dup ENSP00000498081.1:n.507+143dup
ENST00000568107.2:c.973+143dup ENSP00000476795.1:n.973+143dup
NM_022041.3:c.973+143dup , LRG_242t1:c.973+143dup NP_071324.1:n.973+143dup
XM_017023734.1:c.334+143dup XP_016879223.1:n.334+143dup
NM_001377486.1:c.334+143dup NP_001364415.1:n.334+143dup
NM_022041.4:c.973+143dup MANE Select NP_071324.1:n.973+143dup
Search 100 bp 5'
Search 100 bp 3'