Canonical Allele Identifier: CA2695223162

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399837_1399842delinsGTGCATCGAG , CM000681.2:g.1399837_1399842delinsGTGCATCGAG	GRCh38
NC_000019.9:g.1399836_1399841delinsGTGCATCGAG , CM000681.1:g.1399836_1399841delinsGTGCATCGAG	GRCh37
NC_000019.8:g.1350836_1350841delinsGTGCATCGAG	NCBI36
NG_009785.1:g.6712_6717delinsCTCGATGCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.278_283delinsCTCGATGCAC MANE Select	ENSP00000252288.1:p.Asp93AlafsTer?
ENST00000447102.8:c.278_283delinsCTCGATGCAC	ENSP00000403536.2:p.Asp93AlafsTer?
ENST00000640762.1:c.209_214delinsCTCGATGCAC	ENSP00000492031.1:p.Asp70AlafsTer?
ENST00000252288.6:c.278_283delinsCTCGATGCAC	ENSP00000252288.1:p.Asp93AlafsTer?
ENST00000447102.7:c.278_283delinsCTCGATGCAC	ENSP00000403536.2:p.Asp93AlafsTer?
NM_000156.5:c.278_283delinsCTCGATGCAC	NP_000147.1:p.Asp93AlafsTer?
NM_138924.2:c.278_283delinsCTCGATGCAC	NP_620279.1:p.Asp93AlafsTer?
NM_000156.6:c.278_283delinsCTCGATGCAC MANE Select	NP_000147.1:p.Asp93AlafsTer?
NM_138924.3:c.278_283delinsCTCGATGCAC	NP_620279.1:p.Asp93AlafsTer?