Canonical Allele Identifier: CA7807922

Gene: GNPTG

Linked Data

• dbSNP Id: rs761341825
• ExAC: 16:1412798 T / TCC
• gnomAD v2: 16-1412798-T-TCC
• gnomAD v4: 16-1362797-T-TCC
• MyVariant Identifiers: chr16:g.1412798_1412799insCC (hg19) ; chr16:g.1362797_1362798insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362799_1362800dup , CM000678.2:g.1362799_1362800dup	GRCh38
NC_000016.9:g.1412800_1412801dup , CM000678.1:g.1412800_1412801dup	GRCh37
NC_000016.8:g.1352801_1352802dup	NCBI36
NG_016985.1:g.15901_15902dup
NG_033129.1:g.56906_56907dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-26_841-25dup
ENST00000529110.2:c.826-26_826-25dup	ENSP00000435349.2:n.826-26_826-25dup
ENST00000529957.6:n.800-26_800-25dup
ENST00000683366.1:c.*474-26_*474-25dup	ENSP00000507283.1:n.*474-26_*474-25dup
ENST00000683887.1:c.790-26_790-25dup	ENSP00000506886.1:n.790-26_790-25dup
ENST00000684100.1:n.736-26_736-25dup
ENST00000684126.1:n.876-26_876-25dup
ENST00000684688.1:n.1367-26_1367-25dup
ENST00000204679.9:c.742-26_742-25dup MANE Select	ENSP00000204679.4:n.742-26_742-25dup
ENST00000204679.8:c.742-26_742-25dup	ENSP00000204679.4:n.742-26_742-25dup
ENST00000527076.1:n.1965-26_1965-25dup
ENST00000527168.5:n.909-26_909-25dup
ENST00000529957.5:n.841-26_841-25dup
NM_032520.4:c.742-26_742-25dup	NP_115909.1:n.742-26_742-25dup
XM_017023782.1:c.790-26_790-25dup	XP_016879271.1:n.790-26_790-25dup
XM_017023783.1:c.382-26_382-25dup	XP_016879272.1:n.382-26_382-25dup
NM_032520.5:c.742-26_742-25dup MANE Select	NP_115909.1:n.742-26_742-25dup