Canonical Allele Identifier: CA7807562

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 550212
• ClinVar RCV Id: RCV000664893 ; RCV001037602
• dbSNP Id: rs773452586
• ExAC: 16:1411876 CAAGTAT / C
• gnomAD v2: 16-1411876-CAAGTAT-C
• gnomAD v3: 16-1361875-CAAGTAT-C
• gnomAD v4: 16-1361875-CAAGTAT-C
• MyVariant Identifiers: chr16:g.1411877_1411882del (hg19) ; chr16:g.1361876_1361881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361876_1361881del , CM000678.2:g.1361876_1361881del	GRCh38
NC_000016.9:g.1411877_1411882del , CM000678.1:g.1411877_1411882del	GRCh37
NC_000016.8:g.1351878_1351883del	NCBI36
NG_016985.1:g.14978_14983del
NG_033129.1:g.57824_57829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.337_342del
ENST00000529110.2:c.322_327del	ENSP00000435349.2:p.Lys108_Tyr109del
ENST00000529957.6:n.296_301del
ENST00000683366.1:c.183_188del	ENSP00000507283.1:p.Ser62_Met63del
ENST00000683887.1:c.286_291del	ENSP00000506886.1:p.Lys96_Tyr97del
ENST00000684100.1:n.232_237del
ENST00000684126.1:n.296_301del
ENST00000684688.1:n.863_868del
ENST00000204679.9:c.238_243del MANE Select	ENSP00000204679.4:p.Lys80_Tyr81del
ENST00000204679.8:c.238_243del	ENSP00000204679.4:p.Lys80_Tyr81del
ENST00000526820.5:c.*140_*145del	ENSP00000434413.1:n.*140_*145del
ENST00000527076.1:n.1254_1259del
ENST00000527168.5:n.274_279del
ENST00000529110.1:c.305_310del
ENST00000529957.5:n.337_342del
NM_032520.4:c.238_243del	NP_115909.1:p.Lys80_Tyr81del
XM_017023782.1:c.286_291del	XP_016879271.1:p.Lys96_Tyr97del
XM_017023783.1:c.-123_-118del	XP_016879272.1:n.-123_-118del
NM_032520.5:c.238_243del MANE Select	NP_115909.1:p.Lys80_Tyr81del