Canonical Allele Identifier: CA2634487922

Gene: GAN

Linked Data

• gnomAD v4: 16-81354798-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354803del , CM000678.2:g.81354803del	GRCh38
NC_000016.9:g.81388408del , CM000678.1:g.81388408del	GRCh37
NC_000016.8:g.79945909del	NCBI36
NG_009007.1:g.44838del , LRG_242:g.44838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*341+48del	ENSP00000498114.1:n.*341+48del
ENST00000648994.2:c.633+48del MANE Select	ENSP00000497351.1:n.633+48del
ENST00000650388.1:c.168-1982del	ENSP00000498081.1:n.168-1982del
ENST00000674788.1:n.806del
ENST00000568107.2:c.633+48del	ENSP00000476795.1:n.633+48del
NM_022041.3:c.633+48del , LRG_242t1:c.633+48del	NP_071324.1:n.633+48del
XM_017023734.1:c.-7+48del	XP_016879223.1:n.-7+48del
NM_001377486.1:c.-7+48del	NP_001364415.1:n.-7+48del
NM_022041.4:c.633+48del MANE Select	NP_071324.1:n.633+48del