Canonical Allele Identifier: CA2576072619

Gene: GAN

Linked Data

• gnomAD v4: 16-81354788-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354793del , CM000678.2:g.81354793del	GRCh38
NC_000016.9:g.81388398del , CM000678.1:g.81388398del	GRCh37
NC_000016.8:g.79945899del	NCBI36
NG_009007.1:g.44828del , LRG_242:g.44828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*341+38del	ENSP00000498114.1:n.*341+38del
ENST00000648994.2:c.633+38del MANE Select	ENSP00000497351.1:n.633+38del
ENST00000650388.1:c.168-1992del	ENSP00000498081.1:n.168-1992del
ENST00000674788.1:n.796del
ENST00000568107.2:c.633+38del	ENSP00000476795.1:n.633+38del
NM_022041.3:c.633+38del , LRG_242t1:c.633+38del	NP_071324.1:n.633+38del
XM_017023734.1:c.-7+38del	XP_016879223.1:n.-7+38del
NM_001377486.1:c.-7+38del	NP_001364415.1:n.-7+38del
NM_022041.4:c.633+38del MANE Select	NP_071324.1:n.633+38del