Canonical Allele Identifier: CA2201615466

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034947042
• gnomAD v4: 16-1362900-CCCACAGGTGAGTCACCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362901_1362919del , CM000678.2:g.1362901_1362919del	GRCh38
NC_000016.9:g.1412902_1412920del , CM000678.1:g.1412902_1412920del	GRCh37
NC_000016.8:g.1352903_1352921del	NCBI36
NG_016985.1:g.16003_16021del
NG_033129.1:g.56786_56804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.917_922+13del
ENST00000529110.2:c.902_907+13del
ENST00000529957.6:n.876_881+13del
ENST00000683366.1:c.*550_*555+13del
ENST00000683887.1:c.866_871+13del
ENST00000684100.1:n.812_817+13del
ENST00000684126.1:n.952_957+13del
ENST00000684688.1:n.1443_1448+13del
ENST00000204679.9:c.818_823+13del
ENST00000204679.8:c.818_823+13del
ENST00000527076.1:n.2041_2046+13del
ENST00000527168.5:n.985_990+13del
NM_032520.4:c.818_823+13del
XM_017023782.1:c.866_871+13del
XM_017023783.1:c.458_463+13del
NM_032520.5:c.818_823+13del