Canonical Allele Identifier: CA912994972

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411879_1411881del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361878_1361880del , CM000678.2:g.1361878_1361880del	GRCh38
NC_000016.9:g.1411879_1411881del , CM000678.1:g.1411879_1411881del	GRCh37
NC_000016.8:g.1351880_1351882del	NCBI36
NG_016985.1:g.14980_14982del
NG_033129.1:g.57826_57828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.339_341del
ENST00000529110.2:c.324_326del	ENSP00000435349.2:p.Lys108_Tyr109delinsAsn
ENST00000529957.6:n.298_300del
ENST00000683366.1:c.185_187del	ENSP00000507283.1:p.Ser62del
ENST00000683887.1:c.288_290del	ENSP00000506886.1:p.Lys96_Tyr97delinsAsn
ENST00000684100.1:n.234_236del
ENST00000684126.1:n.298_300del
ENST00000684688.1:n.865_867del
ENST00000204679.9:c.240_242del MANE Select	ENSP00000204679.4:p.Lys80_Tyr81delinsAsn
ENST00000204679.8:c.240_242del	ENSP00000204679.4:p.Lys80_Tyr81delinsAsn
ENST00000526820.5:c.*142_*144del	ENSP00000434413.1:n.*142_*144del
ENST00000527076.1:n.1256_1258del
ENST00000527168.5:n.276_278del
ENST00000529110.1:c.307_309del
ENST00000529957.5:n.339_341del
NM_032520.4:c.240_242del	NP_115909.1:p.Lys80_Tyr81delinsAsn
XM_017023782.1:c.288_290del	XP_016879271.1:p.Lys96_Tyr97delinsAsn
XM_017023783.1:c.-121_-119del	XP_016879272.1:n.-121_-119del
NM_032520.5:c.240_242del MANE Select	NP_115909.1:p.Lys80_Tyr81delinsAsn