Canonical Allele Identifier: CA7807838

Gene: GNPTG

Linked Data

• dbSNP Id: rs749567145
• ExAC: 16:1412560 CTGGTGGGCCT / C
• gnomAD v2: 16-1412560-CTGGTGGGCCT-C
• gnomAD v3: 16-1362559-CTGGTGGGCCT-C
• gnomAD v4: 16-1362559-CTGGTGGGCCT-C
• MyVariant Identifiers: chr16:g.1412561_1412570del (hg19) ; chr16:g.1362560_1362569del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362560_1362569del , CM000678.2:g.1362560_1362569del	GRCh38
NC_000016.9:g.1412561_1412570del , CM000678.1:g.1412561_1412570del	GRCh37
NC_000016.8:g.1352562_1352571del	NCBI36
NG_016985.1:g.15662_15671del
NG_033129.1:g.57136_57145del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+26_708+35del
ENST00000529110.2:c.693+26_693+35del	ENSP00000435349.2:n.693+26_693+35del
ENST00000529957.6:n.667+26_667+35del
ENST00000683366.1:c.*341+26_*341+35del	ENSP00000507283.1:n.*341+26_*341+35del
ENST00000683887.1:c.657+26_657+35del	ENSP00000506886.1:n.657+26_657+35del
ENST00000684100.1:n.603+26_603+35del
ENST00000684126.1:n.693_702del
ENST00000684688.1:n.1234+26_1234+35del
ENST00000204679.9:c.609+26_609+35del MANE Select	ENSP00000204679.4:n.609+26_609+35del
ENST00000204679.8:c.609+26_609+35del	ENSP00000204679.4:n.609+26_609+35del
ENST00000527076.1:n.1782_1791del
ENST00000527168.5:n.776+26_776+35del
ENST00000529957.5:n.708+26_708+35del
NM_032520.4:c.609+26_609+35del	NP_115909.1:n.609+26_609+35del
XM_017023782.1:c.657+26_657+35del	XP_016879271.1:n.657+26_657+35del
XM_017023783.1:c.249+26_249+35del	XP_016879272.1:n.249+26_249+35del
NM_032520.5:c.609+26_609+35del MANE Select	NP_115909.1:n.609+26_609+35del