Canonical Allele Identifier: CA2317699478

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399778_1399779delinsCG , CM000681.2:g.1399778_1399779delinsCG	GRCh38
NC_000019.9:g.1399777_1399778delinsCG , CM000681.1:g.1399777_1399778delinsCG	GRCh37
NC_000019.8:g.1350777_1350778delinsCG	NCBI36
NG_009785.1:g.6775_6776delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+14_327+15delinsCG MANE Select	ENSP00000252288.1:n.327+14_327+15delinsCG
ENST00000447102.8:c.327+14_327+15delinsCG	ENSP00000403536.2:n.327+14_327+15delinsCG
ENST00000591788.3:c.10+14_10+15delinsCG
ENST00000640762.1:c.258+14_258+15delinsCG	ENSP00000492031.1:n.258+14_258+15delinsCG
ENST00000252288.6:c.327+14_327+15delinsCG	ENSP00000252288.1:n.327+14_327+15delinsCG
ENST00000447102.7:c.327+14_327+15delinsCG	ENSP00000403536.2:n.327+14_327+15delinsCG
ENST00000591788.2:c.12+14_12+15delinsCG	ENSP00000466341.2:n.12+14_12+15delinsCG
NM_000156.5:c.327+14_327+15delinsCG	NP_000147.1:n.327+14_327+15delinsCG
NM_138924.2:c.327+14_327+15delinsCG	NP_620279.1:n.327+14_327+15delinsCG
NM_000156.6:c.327+14_327+15delinsCG MANE Select	NP_000147.1:n.327+14_327+15delinsCG
NM_138924.3:c.327+14_327+15delinsCG	NP_620279.1:n.327+14_327+15delinsCG