Canonical Allele Identifier: CA2201614322

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361987_1361992delinsAGCAGC , CM000678.2:g.1361987_1361992delinsAGCAGC	GRCh38
NC_000016.9:g.1411988_1411993delinsAGCAGC , CM000678.1:g.1411988_1411993delinsAGCAGC	GRCh37
NC_000016.8:g.1351989_1351994delinsAGCAGC	NCBI36
NG_016985.1:g.15089_15094delinsAGCAGC
NG_033129.1:g.57713_57718delinsGCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.416+32_416+37delinsAGCAGC
ENST00000529110.2:c.401+32_401+37delinsAGCAGC	ENSP00000435349.2:n.401+32_401+37delinsAGCAGC
ENST00000529957.6:n.375+32_375+37delinsAGCAGC
ENST00000683366.1:c.*49+32_*49+37delinsAGCAGC	ENSP00000507283.1:n.*49+32_*49+37delinsAGCAGC
ENST00000683887.1:c.365+32_365+37delinsAGCAGC	ENSP00000506886.1:n.365+32_365+37delinsAGCAGC
ENST00000684100.1:n.311+32_311+37delinsAGCAGC
ENST00000684126.1:n.375+32_375+37delinsAGCAGC
ENST00000684688.1:n.942+32_942+37delinsAGCAGC
ENST00000204679.9:c.317+32_317+37delinsAGCAGC MANE Select	ENSP00000204679.4:n.317+32_317+37delinsAGCAGC
ENST00000204679.8:c.317+32_317+37delinsAGCAGC	ENSP00000204679.4:n.317+32_317+37delinsAGCAGC
ENST00000526820.5:c.*219+32_*219+37delinsAGCAGC	ENSP00000434413.1:n.*219+32_*219+37delinsAGCAGC
ENST00000527076.1:n.1333+32_1333+37delinsAGCAGC
ENST00000527168.5:n.353+32_353+37delinsAGCAGC
ENST00000529110.1:c.384+32_384+37delinsAGCAGC
ENST00000529957.5:n.416+32_416+37delinsAGCAGC
NM_032520.4:c.317+32_317+37delinsAGCAGC	NP_115909.1:n.317+32_317+37delinsAGCAGC
XM_017023782.1:c.365+32_365+37delinsAGCAGC	XP_016879271.1:n.365+32_365+37delinsAGCAGC
XM_017023783.1:c.-44+32_-44+37delinsAGCAGC	XP_016879272.1:n.-44+32_-44+37delinsAGCAGC
NM_032520.5:c.317+32_317+37delinsAGCAGC MANE Select	NP_115909.1:n.317+32_317+37delinsAGCAGC