Canonical Allele Identifier: CA620700246

Gene: GNPTG

Linked Data

• gnomAD v2: 16-1412809-C-A
• gnomAD v4: 16-1362808-C-A
• MyVariant Identifiers: chr16:g.1412809_1412811delinsATT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362808C>A , CM000678.2:g.1362808C>A	GRCh38
NC_000016.9:g.1412809C>A , CM000678.1:g.1412809C>A	GRCh37
NC_000016.8:g.1352810C>A	NCBI36
NG_016985.1:g.15910C>A
NG_033129.1:g.56897G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-17C>A
ENST00000529110.2:c.826-17C>A	ENSP00000435349.2:n.826-17C>A
ENST00000529957.6:n.800-17C>A
ENST00000683366.1:c.*474-17C>A	ENSP00000507283.1:n.*474-17C>A
ENST00000683887.1:c.790-17C>A	ENSP00000506886.1:n.790-17C>A
ENST00000684100.1:n.736-17C>A
ENST00000684126.1:n.876-17C>A
ENST00000684688.1:n.1367-17C>A
ENST00000204679.9:c.742-17C>A MANE Select	ENSP00000204679.4:n.742-17C>A
ENST00000204679.8:c.742-17C>A	ENSP00000204679.4:n.742-17C>A
ENST00000527076.1:n.1965-17C>A
ENST00000527168.5:n.909-17C>A
ENST00000529957.5:n.841-17C>A
NM_032520.4:c.742-17C>A	NP_115909.1:n.742-17C>A
XM_017023782.1:c.790-17C>A	XP_016879271.1:n.790-17C>A
XM_017023783.1:c.382-17C>A	XP_016879272.1:n.382-17C>A
NM_032520.5:c.742-17C>A MANE Select	NP_115909.1:n.742-17C>A