Canonical Allele Identifier: CA525418412

Gene: AMPD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677823_114677824insACCTTCCTTCCT , CM000663.2:g.114677823_114677824insACCTTCCTTCCT	GRCh38
NC_000001.10:g.115220444_115220445insACCTTCCTTCCT , CM000663.1:g.115220444_115220445insACCTTCCTTCCT	GRCh37
NC_000001.9:g.115021967_115021968insACCTTCCTTCCT	NCBI36
NG_008012.1:g.22743_22744insTAGGAAGGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+97_1212+98insTAGGAAGGAAGG	ENSP00000358551.4:n.1212+97_1212+98insTAGGAAGGAAGG
ENST00000520113.7:c.1224+97_1224+98insTAGGAAGGAAGG MANE Select	ENSP00000430075.3:n.1224+97_1224+98insTAGGAAGGAAGG
ENST00000637080.1:c.1007+97_1007+98insTAGGAAGGAAGG	ENSP00000489753.1:n.1007+97_1007+98insTAGGAAGGAAGG
ENST00000639077.1:n.889+97_889+98insTAGGAAGGAAGG
ENST00000369538.3:c.1311+97_1311+98insTAGGAAGGAAGG	ENSP00000358551.3:n.1311+97_1311+98insTAGGAAGGAAGG
ENST00000520113.6:c.1323+97_1323+98insTAGGAAGGAAGG	ENSP00000430075.2:n.1323+97_1323+98insTAGGAAGGAAGG
NM_000036.2:c.1323+97_1323+98insTAGGAAGGAAGG	NP_000027.2:n.1323+97_1323+98insTAGGAAGGAAGG
NM_001172626.1:c.1311+97_1311+98insTAGGAAGGAAGG	NP_001166097.1:n.1311+97_1311+98insTAGGAAGGAAGG
NM_000036.3:c.1224+97_1224+98insTAGGAAGGAAGG MANE Select	NP_000027.3:n.1224+97_1224+98insTAGGAAGGAAGG
NM_001172626.2:c.1212+97_1212+98insTAGGAAGGAAGG	NP_001166097.2:n.1212+97_1212+98insTAGGAAGGAAGG