Canonical Allele Identifier: CA2633026031

Gene: GPT2

Linked Data

• gnomAD v4: 16-46922426-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46922429_46922430del , CM000678.2:g.46922429_46922430del	GRCh38
NC_000016.9:g.46956341_46956342del , CM000678.1:g.46956341_46956342del	GRCh37
NC_000016.8:g.45513842_45513843del	NCBI36
NG_042110.1:g.43050_43051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340124.9:c.1212+13_1212+14del MANE Select	ENSP00000345282.4:n.1212+13_1212+14del
ENST00000340124.8:c.1212+13_1212+14del	ENSP00000345282.4:n.1212+13_1212+14del
ENST00000440783.2:c.912+13_912+14del	ENSP00000413804.2:n.912+13_912+14del
ENST00000562801.5:n.1722+13_1722+14del
NM_001142466.1:c.912+13_912+14del	NP_001135938.1:n.912+13_912+14del
NM_001142466.2:c.912+13_912+14del	NP_001135938.1:n.912+13_912+14del
NM_133443.2:c.1212+13_1212+14del	NP_597700.1:n.1212+13_1212+14del
NM_133443.3:c.1212+13_1212+14del	NP_597700.1:n.1212+13_1212+14del
XM_017023790.1:c.780+13_780+14del	XP_016879279.1:n.780+13_780+14del
NM_133443.4:c.1212+13_1212+14del MANE Select	NP_597700.1:n.1212+13_1212+14del
NM_001142466.3:c.912+13_912+14del	NP_001135938.1:n.912+13_912+14del