Canonical Allele Identifier: CA2630960992

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362556-CCCCTGGTGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362559_1362568del , CM000678.2:g.1362559_1362568del	GRCh38
NC_000016.9:g.1412560_1412569del , CM000678.1:g.1412560_1412569del	GRCh37
NC_000016.8:g.1352561_1352570del	NCBI36
NG_016985.1:g.15661_15670del
NG_033129.1:g.57139_57148del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+25_708+34del
ENST00000529110.2:c.693+25_693+34del	ENSP00000435349.2:n.693+25_693+34del
ENST00000529957.6:n.667+25_667+34del
ENST00000683366.1:c.*341+25_*341+34del	ENSP00000507283.1:n.*341+25_*341+34del
ENST00000683887.1:c.657+25_657+34del	ENSP00000506886.1:n.657+25_657+34del
ENST00000684100.1:n.603+25_603+34del
ENST00000684126.1:n.692_701del
ENST00000684688.1:n.1234+25_1234+34del
ENST00000204679.9:c.609+25_609+34del MANE Select	ENSP00000204679.4:n.609+25_609+34del
ENST00000204679.8:c.609+25_609+34del	ENSP00000204679.4:n.609+25_609+34del
ENST00000527076.1:n.1781_1790del
ENST00000527168.5:n.776+25_776+34del
ENST00000529957.5:n.708+25_708+34del
NM_032520.4:c.609+25_609+34del	NP_115909.1:n.609+25_609+34del
XM_017023782.1:c.657+25_657+34del	XP_016879271.1:n.657+25_657+34del
XM_017023783.1:c.249+25_249+34del	XP_016879272.1:n.249+25_249+34del
NM_032520.5:c.609+25_609+34del MANE Select	NP_115909.1:n.609+25_609+34del