Canonical Allele Identifier: CA2647248173

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677860-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677860_114677861insCA , CM000663.2:g.114677860_114677861insCA	GRCh38
NC_000001.10:g.115220481_115220482insCA , CM000663.1:g.115220481_115220482insCA	GRCh37
NC_000001.9:g.115022004_115022005insCA	NCBI36
NG_008012.1:g.22695_22696insTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+49_1212+50insTG	ENSP00000358551.4:n.1212+49_1212+50insTG
ENST00000520113.7:c.1224+49_1224+50insTG MANE Select	ENSP00000430075.3:n.1224+49_1224+50insTG
ENST00000637080.1:c.1007+49_1007+50insTG	ENSP00000489753.1:n.1007+49_1007+50insTG
ENST00000639077.1:n.889+49_889+50insTG
ENST00000369538.3:c.1311+49_1311+50insTG	ENSP00000358551.3:n.1311+49_1311+50insTG
ENST00000520113.6:c.1323+49_1323+50insTG	ENSP00000430075.2:n.1323+49_1323+50insTG
NM_000036.2:c.1323+49_1323+50insTG	NP_000027.2:n.1323+49_1323+50insTG
NM_001172626.1:c.1311+49_1311+50insTG	NP_001166097.1:n.1311+49_1311+50insTG
NM_000036.3:c.1224+49_1224+50insTG MANE Select	NP_000027.3:n.1224+49_1224+50insTG
NM_001172626.2:c.1212+49_1212+50insTG	NP_001166097.2:n.1212+49_1212+50insTG