Canonical Allele Identifier: CA620700136

Gene: GNPTG

Linked Data

• dbSNP Id: rs1453985493
• gnomAD v2: 16-1411861-C-CTG
• gnomAD v3: 16-1361860-C-CTG
• gnomAD v4: 16-1361860-C-CTG
• MyVariant Identifiers: chr16:g.1411861_1411862insTG (hg19) ; chr16:g.1361860_1361861insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361864_1361865dup , CM000678.2:g.1361864_1361865dup	GRCh38
NC_000016.9:g.1411865_1411866dup , CM000678.1:g.1411865_1411866dup	GRCh37
NC_000016.8:g.1351866_1351867dup	NCBI36
NG_016985.1:g.14966_14967dup
NG_033129.1:g.57843_57844dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.333-8_333-7dup
ENST00000529110.2:c.318-8_318-7dup	ENSP00000435349.2:n.318-8_318-7dup
ENST00000529957.6:n.292-8_292-7dup
ENST00000683366.1:c.179-8_179-7dup	ENSP00000507283.1:n.179-8_179-7dup
ENST00000683887.1:c.282-8_282-7dup	ENSP00000506886.1:n.282-8_282-7dup
ENST00000684100.1:n.220_221dup
ENST00000684126.1:n.292-8_292-7dup
ENST00000684688.1:n.859-8_859-7dup
ENST00000204679.9:c.234-8_234-7dup MANE Select	ENSP00000204679.4:n.234-8_234-7dup
ENST00000204679.8:c.234-8_234-7dup	ENSP00000204679.4:n.234-8_234-7dup
ENST00000526820.5:c.*136-8_*136-7dup	ENSP00000434413.1:n.*136-8_*136-7dup
ENST00000527076.1:n.1242_1243dup
ENST00000527168.5:n.270-8_270-7dup
ENST00000529110.1:c.301-8_301-7dup
ENST00000529957.5:n.333-8_333-7dup
NM_032520.4:c.234-8_234-7dup	NP_115909.1:n.234-8_234-7dup
XM_017023782.1:c.282-8_282-7dup	XP_016879271.1:n.282-8_282-7dup
XM_017023783.1:c.-127-8_-127-7dup	XP_016879272.1:n.-127-8_-127-7dup
NM_032520.5:c.234-8_234-7dup MANE Select	NP_115909.1:n.234-8_234-7dup