Canonical Allele Identifier: CA525418438

Gene: AMPD1

Linked Data

• dbSNP Id: rs1393263973
• gnomAD v2: 1-115220480-T-TTCC
• gnomAD v3: 1-114677859-T-TTCC
• gnomAD v4: 1-114677859-T-TTCC
• MyVariant Identifiers: chr1:g.115220480_115220481insTCC (hg19) ; chr1:g.114677859_114677860insTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677860_114677861insCCT , CM000663.2:g.114677860_114677861insCCT	GRCh38
NC_000001.10:g.115220481_115220482insCCT , CM000663.1:g.115220481_115220482insCCT	GRCh37
NC_000001.9:g.115022004_115022005insCCT	NCBI36
NG_008012.1:g.22696_22697insGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+50_1212+51insGGA	ENSP00000358551.4:n.1212+50_1212+51insGGA
ENST00000520113.7:c.1224+50_1224+51insGGA MANE Select	ENSP00000430075.3:n.1224+50_1224+51insGGA
ENST00000637080.1:c.1007+50_1007+51insGGA	ENSP00000489753.1:n.1007+50_1007+51insGGA
ENST00000639077.1:n.889+50_889+51insGGA
ENST00000369538.3:c.1311+50_1311+51insGGA	ENSP00000358551.3:n.1311+50_1311+51insGGA
ENST00000520113.6:c.1323+50_1323+51insGGA	ENSP00000430075.2:n.1323+50_1323+51insGGA
NM_000036.2:c.1323+50_1323+51insGGA	NP_000027.2:n.1323+50_1323+51insGGA
NM_001172626.1:c.1311+50_1311+51insGGA	NP_001166097.1:n.1311+50_1311+51insGGA
NM_000036.3:c.1224+50_1224+51insGGA MANE Select	NP_000027.3:n.1224+50_1224+51insGGA
NM_001172626.2:c.1212+50_1212+51insGGA	NP_001166097.2:n.1212+50_1212+51insGGA