Canonical Allele Identifier: CA915949356

Gene: GAN

Linked Data

• ClinVar Variation Id: 644899
• ClinVar RCV Id: RCV000798891
• dbSNP Id: rs1597407293

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365357_81365358delinsTT , CM000678.2:g.81365357_81365358delinsTT	GRCh38
NC_000016.9:g.81398962_81398963delinsTT , CM000678.1:g.81398962_81398963delinsTT	GRCh37
NC_000016.8:g.79956463_79956464delinsTT	NCBI36
NG_009007.1:g.55392_55393delinsTT , LRG_242:g.55392_55393delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1089_*1090delinsTT	ENSP00000498114.1:n.*1089_*1090delinsTT
ENST00000648994.2:c.1381_1382delinsTT MANE Select	ENSP00000497351.1:p.Ala461Leu
ENST00000650388.1:c.915_916delinsTT	ENSP00000498081.1:n.915_916delinsTT
ENST00000568107.2:c.1381_1382delinsTT	ENSP00000476795.1:p.Ala461Leu
NM_022041.3:c.1381_1382delinsTT , LRG_242t1:c.1381_1382delinsTT	NP_071324.1:p.Ala461Leu
XM_017023734.1:c.742_743delinsTT	XP_016879223.1:p.Ala248Leu
NM_001377486.1:c.742_743delinsTT	NP_001364415.1:p.Ala248Leu
NM_022041.4:c.1381_1382delinsTT MANE Select	NP_071324.1:p.Ala461Leu