Canonical Allele Identifier: CA979656242

Gene: GAN

Linked Data

• dbSNP Id: rs1910433738
• gnomAD v3: 16-81354842-TGAAA-T
• gnomAD v4: 16-81354842-TGAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354845_81354848del , CM000678.2:g.81354845_81354848del	GRCh38
NC_000016.9:g.81388450_81388453del , CM000678.1:g.81388450_81388453del	GRCh37
NC_000016.8:g.79945951_79945954del	NCBI36
NG_009007.1:g.44880_44883del , LRG_242:g.44880_44883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*341+90_*341+93del	ENSP00000498114.1:n.*341+90_*341+93del
ENST00000648994.2:c.633+90_633+93del MANE Select	ENSP00000497351.1:n.633+90_633+93del
ENST00000650388.1:c.168-1940_168-1937del	ENSP00000498081.1:n.168-1940_168-1937del
ENST00000674788.1:n.848_851del
ENST00000568107.2:c.633+90_633+93del	ENSP00000476795.1:n.633+90_633+93del
NM_022041.3:c.633+90_633+93del , LRG_242t1:c.633+90_633+93del	NP_071324.1:n.633+90_633+93del
XM_017023734.1:c.-7+90_-7+93del	XP_016879223.1:n.-7+90_-7+93del
NM_001377486.1:c.-7+90_-7+93del	NP_001364415.1:n.-7+90_-7+93del
NM_022041.4:c.633+90_633+93del MANE Select	NP_071324.1:n.633+90_633+93del