Canonical Allele Identifier: CA2317699519

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399830_1399831delinsTG , CM000681.2:g.1399830_1399831delinsTG	GRCh38
NC_000019.9:g.1399829_1399830delinsTG , CM000681.1:g.1399829_1399830delinsTG	GRCh37
NC_000019.8:g.1350829_1350830delinsTG	NCBI36
NG_009785.1:g.6723_6724delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.289_290delinsCA MANE Select	ENSP00000252288.1:p.Gln97=
ENST00000447102.8:c.289_290delinsCA	ENSP00000403536.2:p.Gln97=
ENST00000640762.1:c.220_221delinsCA	ENSP00000492031.1:p.Gln74=
ENST00000252288.6:c.289_290delinsCA	ENSP00000252288.1:p.Gln97=
ENST00000447102.7:c.289_290delinsCA	ENSP00000403536.2:p.Gln97=
NM_000156.5:c.289_290delinsCA	NP_000147.1:p.Gln97=
NM_138924.2:c.289_290delinsCA	NP_620279.1:p.Gln97=
NM_000156.6:c.289_290delinsCA MANE Select	NP_000147.1:p.Gln97=
NM_138924.3:c.289_290delinsCA	NP_620279.1:p.Gln97=