Canonical Allele Identifier: CA2630958124

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361682-CCAGTCTTTGCAGACAGGTTCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361683_1361705del , CM000678.2:g.1361683_1361705del	GRCh38
NC_000016.9:g.1411684_1411706del , CM000678.1:g.1411684_1411706del	GRCh37
NC_000016.8:g.1351685_1351707del	NCBI36
NG_016985.1:g.14785_14807del
NG_033129.1:g.58000_58022del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-60_278-38del
ENST00000529110.2:c.263-60_263-38del	ENSP00000435349.2:n.263-60_263-38del
ENST00000529957.6:n.237-60_237-38del
ENST00000683366.1:c.179-189_179-167del	ENSP00000507283.1:n.179-189_179-167del
ENST00000683887.1:c.179-12_189del
ENST00000684100.1:n.39_61del
ENST00000684126.1:n.237-60_237-38del
ENST00000684688.1:n.744_766del
ENST00000204679.9:c.179-60_179-38del MANE Select	ENSP00000204679.4:n.179-60_179-38del
ENST00000204679.8:c.179-60_179-38del	ENSP00000204679.4:n.179-60_179-38del
ENST00000526820.5:c.*81-60_*81-38del	ENSP00000434413.1:n.*81-60_*81-38del
ENST00000527076.1:n.1061_1083del
ENST00000527168.5:n.270-189_270-167del
ENST00000529110.1:c.246-60_246-38del
ENST00000529957.5:n.278-60_278-38del
NM_032520.4:c.179-60_179-38del	NP_115909.1:n.179-60_179-38del
XM_017023782.1:c.179-12_189del
XM_017023783.1:c.-182-60_-182-38del	XP_016879272.1:n.-182-60_-182-38del
NM_032520.5:c.179-60_179-38del MANE Select	NP_115909.1:n.179-60_179-38del