Canonical Allele Identifier: CA912994980

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412950_1412977del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362949_1362976del , CM000678.2:g.1362949_1362976del	GRCh38
NC_000016.9:g.1412950_1412977del , CM000678.1:g.1412950_1412977del	GRCh37
NC_000016.8:g.1352951_1352978del	NCBI36
NG_016985.1:g.16051_16078del
NG_033129.1:g.56729_56756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+43_923-21del
ENST00000529110.2:c.907+43_908-21del	ENSP00000435349.2:n.907+43_908-21del
ENST00000529957.6:n.881+43_882-21del
ENST00000683366.1:c.*555+43_*556-21del	ENSP00000507283.1:n.*555+43_*556-21del
ENST00000683887.1:c.871+43_872-21del	ENSP00000506886.1:n.871+43_872-21del
ENST00000684100.1:n.817+43_818-21del
ENST00000684126.1:n.957+43_958-21del
ENST00000684688.1:n.1448+43_1449-21del
ENST00000204679.9:c.823+43_824-21del MANE Select	ENSP00000204679.4:n.823+43_824-21del
ENST00000204679.8:c.823+43_824-21del	ENSP00000204679.4:n.823+43_824-21del
ENST00000527076.1:n.2046+43_2047-21del
ENST00000527168.5:n.990+43_991-21del
NM_032520.4:c.823+43_824-21del	NP_115909.1:n.823+43_824-21del
XM_017023782.1:c.871+43_872-21del	XP_016879271.1:n.871+43_872-21del
XM_017023783.1:c.463+43_464-21del	XP_016879272.1:n.463+43_464-21del
NM_032520.5:c.823+43_824-21del MANE Select	NP_115909.1:n.823+43_824-21del