Canonical Allele Identifier: CA1005999493

Gene: AMPD1

Linked Data

• dbSNP Id: rs1557969503
• gnomAD v3: 1-114677799-C-CCTTCCTTCCTTCCT
• gnomAD v4: 1-114677799-C-CCTTCCTTCCTTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677799_114677800insCTTCCTTCCTTCCT , CM000663.2:g.114677799_114677800insCTTCCTTCCTTCCT	GRCh38
NC_000001.10:g.115220420_115220421insCTTCCTTCCTTCCT , CM000663.1:g.115220420_115220421insCTTCCTTCCTTCCT	GRCh37
NC_000001.9:g.115021943_115021944insCTTCCTTCCTTCCT	NCBI36
NG_008012.1:g.22756_22757insAGGAAGGAAGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+110_1212+111insAGGAAGGAAGGAAG	ENSP00000358551.4:n.1212+110_1212+111insAGGAAGGAAGGAAG
ENST00000520113.7:c.1224+110_1224+111insAGGAAGGAAGGAAG MANE Select	ENSP00000430075.3:n.1224+110_1224+111insAGGAAGGAAGGAAG
ENST00000637080.1:c.1007+110_1007+111insAGGAAGGAAGGAAG	ENSP00000489753.1:n.1007+110_1007+111insAGGAAGGAAGGAAG
ENST00000639077.1:n.889+110_889+111insAGGAAGGAAGGAAG
ENST00000369538.3:c.1311+110_1311+111insAGGAAGGAAGGAAG	ENSP00000358551.3:n.1311+110_1311+111insAGGAAGGAAGGAAG
ENST00000520113.6:c.1323+110_1323+111insAGGAAGGAAGGAAG	ENSP00000430075.2:n.1323+110_1323+111insAGGAAGGAAGGAAG
NM_000036.2:c.1323+110_1323+111insAGGAAGGAAGGAAG	NP_000027.2:n.1323+110_1323+111insAGGAAGGAAGGAAG
NM_001172626.1:c.1311+110_1311+111insAGGAAGGAAGGAAG	NP_001166097.1:n.1311+110_1311+111insAGGAAGGAAGGAAG
NM_000036.3:c.1224+110_1224+111insAGGAAGGAAGGAAG MANE Select	NP_000027.3:n.1224+110_1224+111insAGGAAGGAAGGAAG
NM_001172626.2:c.1212+110_1212+111insAGGAAGGAAGGAAG	NP_001166097.2:n.1212+110_1212+111insAGGAAGGAAGGAAG