Canonical Allele Identifier: CA7807551

Gene: GNPTG

Linked Data

• dbSNP Id: rs769814085
• ExAC: 16:1411845 A / AC
• gnomAD v2: 16-1411845-A-AC
• gnomAD v3: 16-1361844-A-AC
• gnomAD v4: 16-1361844-A-AC
• MyVariant Identifiers: chr16:g.1411845_1411846insC (hg19) ; chr16:g.1361844_1361845insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361850dup , CM000678.2:g.1361850dup	GRCh38
NC_000016.9:g.1411851dup , CM000678.1:g.1411851dup	GRCh37
NC_000016.8:g.1351852dup	NCBI36
NG_016985.1:g.14952dup
NG_033129.1:g.57860dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.333-22dup
ENST00000529110.2:c.318-22dup	ENSP00000435349.2:n.318-22dup
ENST00000529957.6:n.292-22dup
ENST00000683366.1:c.179-22dup	ENSP00000507283.1:n.179-22dup
ENST00000683887.1:c.282-22dup	ENSP00000506886.1:n.282-22dup
ENST00000684100.1:n.206dup
ENST00000684126.1:n.292-22dup
ENST00000684688.1:n.859-22dup
ENST00000204679.9:c.234-22dup MANE Select	ENSP00000204679.4:n.234-22dup
ENST00000204679.8:c.234-22dup	ENSP00000204679.4:n.234-22dup
ENST00000526820.5:c.*136-22dup	ENSP00000434413.1:n.*136-22dup
ENST00000527076.1:n.1228dup
ENST00000527168.5:n.270-22dup
ENST00000529110.1:c.301-22dup
ENST00000529957.5:n.333-22dup
NM_032520.4:c.234-22dup	NP_115909.1:n.234-22dup
XM_017023782.1:c.282-22dup	XP_016879271.1:n.282-22dup
XM_017023783.1:c.-127-22dup	XP_016879272.1:n.-127-22dup
NM_032520.5:c.234-22dup MANE Select	NP_115909.1:n.234-22dup