Canonical Allele Identifier: CA620700247

Gene: GNPTG

Linked Data

• dbSNP Id: rs1567185274
• gnomAD v2: 16-1412809-CTT-C
• gnomAD v4: 16-1362808-CTT-C
• MyVariant Identifiers: chr16:g.1412810_1412811del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362812_1362813del , CM000678.2:g.1362812_1362813del	GRCh38
NC_000016.9:g.1412813_1412814del , CM000678.1:g.1412813_1412814del	GRCh37
NC_000016.8:g.1352814_1352815del	NCBI36
NG_016985.1:g.15914_15915del
NG_033129.1:g.56895_56896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-13_841-12del
ENST00000529110.2:c.826-13_826-12del	ENSP00000435349.2:n.826-13_826-12del
ENST00000529957.6:n.800-13_800-12del
ENST00000683366.1:c.*474-13_*474-12del	ENSP00000507283.1:n.*474-13_*474-12del
ENST00000683887.1:c.790-13_790-12del	ENSP00000506886.1:n.790-13_790-12del
ENST00000684100.1:n.736-13_736-12del
ENST00000684126.1:n.876-13_876-12del
ENST00000684688.1:n.1367-13_1367-12del
ENST00000204679.9:c.742-13_742-12del MANE Select	ENSP00000204679.4:n.742-13_742-12del
ENST00000204679.8:c.742-13_742-12del	ENSP00000204679.4:n.742-13_742-12del
ENST00000527076.1:n.1965-13_1965-12del
ENST00000527168.5:n.909-13_909-12del
ENST00000529957.5:n.841-13_841-12del
NM_032520.4:c.742-13_742-12del	NP_115909.1:n.742-13_742-12del
XM_017023782.1:c.790-13_790-12del	XP_016879271.1:n.790-13_790-12del
XM_017023783.1:c.382-13_382-12del	XP_016879272.1:n.382-13_382-12del
NM_032520.5:c.742-13_742-12del MANE Select	NP_115909.1:n.742-13_742-12del