Canonical Allele Identifier: CA2588340134

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677799_114677803delinsCTCCT , CM000663.2:g.114677799_114677803delinsCTCCT	GRCh38
NC_000001.10:g.115220420_115220424delinsCTCCT , CM000663.1:g.115220420_115220424delinsCTCCT	GRCh37
NC_000001.9:g.115021943_115021947delinsCTCCT	NCBI36
NG_008012.1:g.22753_22757delinsAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+107_1212+111delinsAGGAG	ENSP00000358551.4:n.1212+107_1212+111delinsAGGAG
ENST00000520113.7:c.1224+107_1224+111delinsAGGAG MANE Select	ENSP00000430075.3:n.1224+107_1224+111delinsAGGAG
ENST00000637080.1:c.1007+107_1007+111delinsAGGAG	ENSP00000489753.1:n.1007+107_1007+111delinsAGGAG
ENST00000639077.1:n.889+107_889+111delinsAGGAG
ENST00000369538.3:c.1311+107_1311+111delinsAGGAG	ENSP00000358551.3:n.1311+107_1311+111delinsAGGAG
ENST00000520113.6:c.1323+107_1323+111delinsAGGAG	ENSP00000430075.2:n.1323+107_1323+111delinsAGGAG
NM_000036.2:c.1323+107_1323+111delinsAGGAG	NP_000027.2:n.1323+107_1323+111delinsAGGAG
NM_001172626.1:c.1311+107_1311+111delinsAGGAG	NP_001166097.1:n.1311+107_1311+111delinsAGGAG
NM_000036.3:c.1224+107_1224+111delinsAGGAG MANE Select	NP_000027.3:n.1224+107_1224+111delinsAGGAG
NM_001172626.2:c.1212+107_1212+111delinsAGGAG	NP_001166097.2:n.1212+107_1212+111delinsAGGAG