Canonical Allele Identifier: CA2630959576

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362191-A-ACGTTCCCTCCCCAGGTGGAGCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362195_1362218dup , CM000678.2:g.1362195_1362218dup	GRCh38
NC_000016.9:g.1412196_1412219dup , CM000678.1:g.1412196_1412219dup	GRCh37
NC_000016.8:g.1352197_1352220dup	NCBI36
NG_016985.1:g.15297_15320dup
NG_033129.1:g.57490_57513dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-11_523dup
ENST00000529110.2:c.496-11_508dup
ENST00000529957.6:n.470-11_482dup
ENST00000683366.1:c.*144-11_*156dup
ENST00000683887.1:c.460-11_472dup
ENST00000684100.1:n.406-11_418dup
ENST00000684126.1:n.470-11_482dup
ENST00000684688.1:n.1037-11_1049dup
ENST00000204679.9:c.412-11_424dup
ENST00000204679.8:c.412-11_424dup
ENST00000527076.1:n.1428-11_1440dup
ENST00000527168.5:n.448-11_460dup
ENST00000529110.1:c.479-11_491dup
ENST00000529957.5:n.511-11_523dup
NM_032520.4:c.412-11_424dup
XM_017023782.1:c.460-11_472dup
XM_017023783.1:c.52-11_64dup
NM_032520.5:c.412-11_424dup