Canonical Allele Identifier: CA2504796657
Gene: MAT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280415_80280416del , CM000672.2:g.80280415_80280416del GRCh38
NC_000010.10:g.82040171_82040172del , CM000672.1:g.82040171_82040172del GRCh37
NC_000010.9:g.82030151_82030152del NCBI36
NG_008083.1:g.14264_14265del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.406-99_406-98del MANE Select ENSP00000361287.3:n.406-99_406-98del
ENST00000372213.7:c.406-99_406-98del ENSP00000361287.3:n.406-99_406-98del
ENST00000455001.1:c.217-99_217-98del ENSP00000414961.1:n.217-99_217-98del
NM_000429.2:c.406-99_406-98del NP_000420.1:n.406-99_406-98del
XM_005269842.3:c.406-99_406-98del XP_005269899.1:n.406-99_406-98del
XM_005269843.3:c.283-99_283-98del XP_005269900.1:n.283-99_283-98del
NM_000429.3:c.406-99_406-98del MANE Select NP_000420.1:n.406-99_406-98del