Canonical Allele Identifier: CA2237006702

Gene: GAN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365388_81365400delinsATGTGTTTGGGGG , CM000678.2:g.81365388_81365400delinsATGTGTTTGGGGG	GRCh38
NC_000016.9:g.81398993_81399005delinsATGTGTTTGGGGG , CM000678.1:g.81398993_81399005delinsATGTGTTTGGGGG	GRCh37
NC_000016.8:g.79956494_79956506delinsATGTGTTTGGGGG	NCBI36
NG_009007.1:g.55423_55435delinsATGTGTTTGGGGG , LRG_242:g.55423_55435delinsATGTGTTTGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1120_*1132delinsATGTGTTTGGGGG	ENSP00000498114.1:n.*1120_*1132delinsATGTGTTTGGGGG
ENST00000648994.2:c.1412_1424delinsATGTGTTTGGGGG MANE Select	ENSP00000497351.1:p.Tyr471=
ENST00000650388.1:c.946_958delinsATGTGTTTGGGGG	ENSP00000498081.1:n.946_958delinsATGTGTTTGGGGG
ENST00000568107.2:c.1412_1424delinsATGTGTTTGGGGG	ENSP00000476795.1:p.Tyr471=
NM_022041.3:c.1412_1424delinsATGTGTTTGGGGG , LRG_242t1:c.1412_1424delinsATGTGTTTGGGGG	NP_071324.1:p.Tyr471=
XM_017023734.1:c.773_785delinsATGTGTTTGGGGG	XP_016879223.1:p.Tyr258=
NM_001377486.1:c.773_785delinsATGTGTTTGGGGG	NP_001364415.1:p.Tyr258=
NM_022041.4:c.1412_1424delinsATGTGTTTGGGGG MANE Select	NP_071324.1:p.Tyr471=