Canonical Allele Identifier: CA2647247353

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677616-A-AAAGGAAGAGTTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677618_114677619insGGAAGAGTTAGAA , CM000663.2:g.114677618_114677619insGGAAGAGTTAGAA	GRCh38
NC_000001.10:g.115220239_115220240insGGAAGAGTTAGAA , CM000663.1:g.115220239_115220240insGGAAGAGTTAGAA	GRCh37
NC_000001.9:g.115021762_115021763insGGAAGAGTTAGAA	NCBI36
NG_008012.1:g.22939_22940insCTAACTCTTCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1213-103_1213-102insCTAACTCTTCCTT	ENSP00000358551.4:n.1213-103_1213-102insCTAACTCTTCCTT
ENST00000520113.7:c.1225-103_1225-102insCTAACTCTTCCTT MANE Select	ENSP00000430075.3:n.1225-103_1225-102insCTAACTCTTCCTT
ENST00000637080.1:c.1008-103_1008-102insCTAACTCTTCCTT	ENSP00000489753.1:n.1008-103_1008-102insCTAACTCTTCCTT
ENST00000639077.1:n.890-103_890-102insCTAACTCTTCCTT
ENST00000369538.3:c.1312-103_1312-102insCTAACTCTTCCTT	ENSP00000358551.3:n.1312-103_1312-102insCTAACTCTTCCTT
ENST00000520113.6:c.1324-103_1324-102insCTAACTCTTCCTT	ENSP00000430075.2:n.1324-103_1324-102insCTAACTCTTCCTT
NM_000036.2:c.1324-103_1324-102insCTAACTCTTCCTT	NP_000027.2:n.1324-103_1324-102insCTAACTCTTCCTT
NM_001172626.1:c.1312-103_1312-102insCTAACTCTTCCTT	NP_001166097.1:n.1312-103_1312-102insCTAACTCTTCCTT
NM_000036.3:c.1225-103_1225-102insCTAACTCTTCCTT MANE Select	NP_000027.3:n.1225-103_1225-102insCTAACTCTTCCTT
NM_001172626.2:c.1213-103_1213-102insCTAACTCTTCCTT	NP_001166097.2:n.1213-103_1213-102insCTAACTCTTCCTT