Canonical Allele Identifier: CA1190276466
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677795_114677807delinsCTCCCTCCTTCCT , CM000663.2:g.114677795_114677807delinsCTCCCTCCTTCCT GRCh38
NC_000001.10:g.115220416_115220428delinsCTCCCTCCTTCCT , CM000663.1:g.115220416_115220428delinsCTCCCTCCTTCCT GRCh37
NC_000001.9:g.115021939_115021951delinsCTCCCTCCTTCCT NCBI36
NG_008012.1:g.22749_22761delinsAGGAAGGAGGGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+103_1212+115delinsAGGAAGGAGGGAG ENSP00000358551.4:n.1212+103_1212+115deli...
ENST00000520113.7:c.1224+103_1224+115delinsAGGAAGGAGGGAG MANE Select ENSP00000430075.3:n.1224+103_1224+115deli...
ENST00000637080.1:c.1007+103_1007+115delinsAGGAAGGAGGGAG ENSP00000489753.1:n.1007+103_1007+115deli...
ENST00000639077.1:n.889+103_889+115delinsAGGAAGGAGGGAG
ENST00000369538.3:c.1311+103_1311+115delinsAGGAAGGAGGGAG ENSP00000358551.3:n.1311+103_1311+115deli...
ENST00000520113.6:c.1323+103_1323+115delinsAGGAAGGAGGGAG ENSP00000430075.2:n.1323+103_1323+115deli...
NM_000036.2:c.1323+103_1323+115delinsAGGAAGGAGGGAG NP_000027.2:n.1323+103_1323+115delinsAGGA...
NM_001172626.1:c.1311+103_1311+115delinsAGGAAGGAGGGAG NP_001166097.1:n.1311+103_1311+115delinsA...
NM_000036.3:c.1224+103_1224+115delinsAGGAAGGAGGGAG MANE Select NP_000027.3:n.1224+103_1224+115delinsAGGA...
NM_001172626.2:c.1212+103_1212+115delinsAGGAAGGAGGGAG NP_001166097.2:n.1212+103_1212+115delinsA...