Canonical Allele Identifier: CA276659069

Gene: GNPTG

Linked Data

• dbSNP Id: rs776277092
• ExAC: 16:1412784 C / CAGCACCTGGGCTTTCCCTTGAACTCTTTTTGTGGTTG
• gnomAD v2: 16-1412784-C-CAGCACCTGGGCTTTCCCTTGAACTCTTTTTGTGGTTG
• gnomAD v3: 16-1362783-C-CAGCACCTGGGCTTTCCCTTGAACTCTTTTTGTGGTTG
• gnomAD v4: 16-1362783-C-CAGCACCTGGGCTTTCCCTTGAACTCTTTTTGTGGTTG
• MyVariant Identifiers: chr16:g.1412784_1412785insAGCACCTGGGCTTTCCCTTGAACTCTTTTTGTGGTTG (hg19) ; chr16:g.1362783_1362784insAGCACCTGGGCTTTCCCTTGAACTCTTTTTGTGGTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362784_1362820dup , CM000678.2:g.1362784_1362820dup	GRCh38
NC_000016.9:g.1412785_1412821dup , CM000678.1:g.1412785_1412821dup	GRCh37
NC_000016.8:g.1352786_1352822dup	NCBI36
NG_016985.1:g.15886_15922dup
NG_033129.1:g.56885_56921dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-41_841-5dup
ENST00000529110.2:c.826-41_826-5dup	ENSP00000435349.2:n.826-41_826-5dup
ENST00000529957.6:n.800-41_800-5dup
ENST00000683366.1:c.*474-41_*474-5dup	ENSP00000507283.1:n.*474-41_*474-5dup
ENST00000683887.1:c.790-41_790-5dup	ENSP00000506886.1:n.790-41_790-5dup
ENST00000684100.1:n.736-41_736-5dup
ENST00000684126.1:n.876-41_876-5dup
ENST00000684688.1:n.1367-41_1367-5dup
ENST00000204679.9:c.742-41_742-5dup MANE Select	ENSP00000204679.4:n.742-41_742-5dup
ENST00000204679.8:c.742-41_742-5dup	ENSP00000204679.4:n.742-41_742-5dup
ENST00000527076.1:n.1965-41_1965-5dup
ENST00000527168.5:n.909-41_909-5dup
ENST00000529957.5:n.841-41_841-5dup
NM_032520.4:c.742-41_742-5dup	NP_115909.1:n.742-41_742-5dup
XM_017023782.1:c.790-41_790-5dup	XP_016879271.1:n.790-41_790-5dup
XM_017023783.1:c.382-41_382-5dup	XP_016879272.1:n.382-41_382-5dup
NM_032520.5:c.742-41_742-5dup MANE Select	NP_115909.1:n.742-41_742-5dup