Canonical Allele Identifier: CA2201615486

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362926_1362959delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG , CM000678.2:g.1362926_1362959delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG	GRCh38
NC_000016.9:g.1412927_1412960delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG , CM000678.1:g.1412927_1412960delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG	GRCh37
NC_000016.8:g.1352928_1352961delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG	NCBI36
NG_016985.1:g.16028_16061delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG
NG_033129.1:g.56746_56779delinsCACAGGTGGCGAGTGTGATGGTGAGCCTGGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+20_923-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG
ENST00000529110.2:c.907+20_908-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG	ENSP00000435349.2:n.907+20_908-38delinsAGGGCCAGGCTCACCATCACAC...
ENST00000529957.6:n.881+20_882-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG
ENST00000683366.1:c.*555+20_*556-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG	ENSP00000507283.1:n.*555+20_*556-38delinsAGGGCCAGGCTCACCATCAC...
ENST00000683887.1:c.871+20_872-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG	ENSP00000506886.1:n.871+20_872-38delinsAGGGCCAGGCTCACCATCACAC...
ENST00000684100.1:n.817+20_818-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG
ENST00000684126.1:n.957+20_958-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG
ENST00000684688.1:n.1448+20_1449-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG
ENST00000204679.9:c.823+20_824-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG MANE Select	ENSP00000204679.4:n.823+20_824-38delinsAGGGCCAGGCTCACCATCACAC...
ENST00000204679.8:c.823+20_824-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG	ENSP00000204679.4:n.823+20_824-38delinsAGGGCCAGGCTCACCATCACAC...
ENST00000527076.1:n.2046+20_2047-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG
ENST00000527168.5:n.990+20_991-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG
NM_032520.4:c.823+20_824-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG	NP_115909.1:n.823+20_824-38delinsAGGGCCAGGCTCACCATCACACTCGCCA...
XM_017023782.1:c.871+20_872-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG	XP_016879271.1:n.871+20_872-38delinsAGGGCCAGGCTCACCATCACACTCG...
XM_017023783.1:c.463+20_464-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG	XP_016879272.1:n.463+20_464-38delinsAGGGCCAGGCTCACCATCACACTCG...
NM_032520.5:c.823+20_824-38delinsAGGGCCAGGCTCACCATCACACTCGCCACCTGTG MANE Select	NP_115909.1:n.823+20_824-38delinsAGGGCCAGGCTCACCATCACACTCGCCA...