Canonical Allele Identifier: CA979655847

Gene: GAN

Linked Data

• dbSNP Id: rs5818329
• gnomAD v3: 16-81354241-GAAAA-G
• gnomAD v4: 16-81354241-GAAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354253_81354256del , CM000678.2:g.81354253_81354256del	GRCh38
NC_000016.9:g.81387858_81387861del , CM000678.1:g.81387858_81387861del	GRCh37
NC_000016.8:g.79945359_79945362del	NCBI36
NG_009007.1:g.44288_44291del , LRG_242:g.44288_44291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.168-152_168-149del	ENSP00000498114.1:n.168-152_168-149del
ENST00000648994.2:c.283-152_283-149del MANE Select	ENSP00000497351.1:n.283-152_283-149del
ENST00000650388.1:c.168-2532_168-2529del	ENSP00000498081.1:n.168-2532_168-2529del
ENST00000674788.1:n.408-152_408-149del
ENST00000568107.2:c.283-152_283-149del	ENSP00000476795.1:n.283-152_283-149del
NM_022041.3:c.283-152_283-149del , LRG_242t1:c.283-152_283-149del	NP_071324.1:n.283-152_283-149del
XM_017023734.1:c.-357-152_-357-149del	XP_016879223.1:n.-357-152_-357-149del
NM_001377486.1:c.-357-152_-357-149del	NP_001364415.1:n.-357-152_-357-149del
NM_022041.4:c.283-152_283-149del MANE Select	NP_071324.1:n.283-152_283-149del