Canonical Allele Identifier: CA2806904548
Gene: GPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46922419del , CM000678.2:g.46922419del GRCh38
NC_000016.9:g.46956331del , CM000678.1:g.46956331del GRCh37
NC_000016.8:g.45513832del NCBI36
NG_042110.1:g.43040del

Transcript Alleles

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