Canonical Allele Identifier: CA2630959608

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362202-C-CCAGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362203_1362209dup , CM000678.2:g.1362203_1362209dup	GRCh38
NC_000016.9:g.1412204_1412210dup , CM000678.1:g.1412204_1412210dup	GRCh37
NC_000016.8:g.1352205_1352211dup	NCBI36
NG_016985.1:g.15305_15311dup
NG_033129.1:g.57496_57502dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-3_514dup
ENST00000529110.2:c.496-3_499dup
ENST00000529957.6:n.470-3_473dup
ENST00000683366.1:c.*144-3_*147dup
ENST00000683887.1:c.460-3_463dup
ENST00000684100.1:n.406-3_409dup
ENST00000684126.1:n.470-3_473dup
ENST00000684688.1:n.1037-3_1040dup
ENST00000204679.9:c.412-3_415dup
ENST00000204679.8:c.412-3_415dup
ENST00000527076.1:n.1428-3_1431dup
ENST00000527168.5:n.448-3_451dup
ENST00000529110.1:c.479-3_482dup
ENST00000529957.5:n.511-3_514dup
NM_032520.4:c.412-3_415dup
XM_017023782.1:c.460-3_463dup
XM_017023783.1:c.52-3_55dup
NM_032520.5:c.412-3_415dup