Canonical Allele Identifier: CA979656237

Gene: GAN

Linked Data

• dbSNP Id: rs1910432741
• gnomAD v3: 16-81354816-AGTT-A
• gnomAD v4: 16-81354816-AGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354820_81354822del , CM000678.2:g.81354820_81354822del	GRCh38
NC_000016.9:g.81388425_81388427del , CM000678.1:g.81388425_81388427del	GRCh37
NC_000016.8:g.79945926_79945928del	NCBI36
NG_009007.1:g.44855_44857del , LRG_242:g.44855_44857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*341+65_*341+67del	ENSP00000498114.1:n.*341+65_*341+67del
ENST00000648994.2:c.633+65_633+67del MANE Select	ENSP00000497351.1:n.633+65_633+67del
ENST00000650388.1:c.168-1965_168-1963del	ENSP00000498081.1:n.168-1965_168-1963del
ENST00000674788.1:n.823_825del
ENST00000568107.2:c.633+65_633+67del	ENSP00000476795.1:n.633+65_633+67del
NM_022041.3:c.633+65_633+67del , LRG_242t1:c.633+65_633+67del	NP_071324.1:n.633+65_633+67del
XM_017023734.1:c.-7+65_-7+67del	XP_016879223.1:n.-7+65_-7+67del
NM_001377486.1:c.-7+65_-7+67del	NP_001364415.1:n.-7+65_-7+67del
NM_022041.4:c.633+65_633+67del MANE Select	NP_071324.1:n.633+65_633+67del