Canonical Allele Identifier: CA2806904550
Gene: GPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46922436_46922453del , CM000678.2:g.46922436_46922453del GRCh38
NC_000016.9:g.46956348_46956365del , CM000678.1:g.46956348_46956365del GRCh37
NC_000016.8:g.45513849_45513866del NCBI36
NG_042110.1:g.43057_43074del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340124.9:c.1212+20_1212+37del MANE Select ENSP00000345282.4:n.1212+20_1212+37del
ENST00000340124.8:c.1212+20_1212+37del ENSP00000345282.4:n.1212+20_1212+37del
ENST00000440783.2:c.912+20_912+37del ENSP00000413804.2:n.912+20_912+37del
ENST00000562801.5:n.1722+20_1722+37del
NM_001142466.1:c.912+20_912+37del NP_001135938.1:n.912+20_912+37del
NM_001142466.2:c.912+20_912+37del NP_001135938.1:n.912+20_912+37del
NM_133443.2:c.1212+20_1212+37del NP_597700.1:n.1212+20_1212+37del
NM_133443.3:c.1212+20_1212+37del NP_597700.1:n.1212+20_1212+37del
XM_017023790.1:c.780+20_780+37del XP_016879279.1:n.780+20_780+37del
NM_133443.4:c.1212+20_1212+37del MANE Select NP_597700.1:n.1212+20_1212+37del
NM_001142466.3:c.912+20_912+37del NP_001135938.1:n.912+20_912+37del