Canonical Allele Identifier: CA979655853

Gene: GAN

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354255_81354256dup , CM000678.2:g.81354255_81354256dup	GRCh38
NC_000016.9:g.81387860_81387861dup , CM000678.1:g.81387860_81387861dup	GRCh37
NC_000016.8:g.79945361_79945362dup	NCBI36
NG_009007.1:g.44290_44291dup , LRG_242:g.44290_44291dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.168-150_168-149dup	ENSP00000498114.1:n.168-150_168-149dup
ENST00000648994.2:c.283-150_283-149dup MANE Select	ENSP00000497351.1:n.283-150_283-149dup
ENST00000650388.1:c.168-2530_168-2529dup	ENSP00000498081.1:n.168-2530_168-2529dup
ENST00000674788.1:n.408-150_408-149dup
ENST00000568107.2:c.283-150_283-149dup	ENSP00000476795.1:n.283-150_283-149dup
NM_022041.3:c.283-150_283-149dup , LRG_242t1:c.283-150_283-149dup	NP_071324.1:n.283-150_283-149dup
XM_017023734.1:c.-357-150_-357-149dup	XP_016879223.1:n.-357-150_-357-149dup
NM_001377486.1:c.-357-150_-357-149dup	NP_001364415.1:n.-357-150_-357-149dup
NM_022041.4:c.283-150_283-149dup MANE Select	NP_071324.1:n.283-150_283-149dup