Canonical Allele Identifier: CA1190276434

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677770_114677775delinsCTCCCT , CM000663.2:g.114677770_114677775delinsCTCCCT	GRCh38
NC_000001.10:g.115220391_115220396delinsCTCCCT , CM000663.1:g.115220391_115220396delinsCTCCCT	GRCh37
NC_000001.9:g.115021914_115021919delinsCTCCCT	NCBI36
NG_008012.1:g.22781_22786delinsAGGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+135_1212+140delinsAGGGAG	ENSP00000358551.4:n.1212+135_1212+140deli...
ENST00000520113.7:c.1224+135_1224+140delinsAGGGAG MANE Select	ENSP00000430075.3:n.1224+135_1224+140deli...
ENST00000637080.1:c.1007+135_1007+140delinsAGGGAG	ENSP00000489753.1:n.1007+135_1007+140deli...
ENST00000639077.1:n.889+135_889+140delinsAGGGAG
ENST00000369538.3:c.1311+135_1311+140delinsAGGGAG	ENSP00000358551.3:n.1311+135_1311+140deli...
ENST00000520113.6:c.1323+135_1323+140delinsAGGGAG	ENSP00000430075.2:n.1323+135_1323+140deli...
NM_000036.2:c.1323+135_1323+140delinsAGGGAG	NP_000027.2:n.1323+135_1323+140delinsAGGG...
NM_001172626.1:c.1311+135_1311+140delinsAGGGAG	NP_001166097.1:n.1311+135_1311+140delinsA...
NM_000036.3:c.1224+135_1224+140delinsAGGGAG MANE Select	NP_000027.3:n.1224+135_1224+140delinsAGGG...
NM_001172626.2:c.1212+135_1212+140delinsAGGGAG	NP_001166097.2:n.1212+135_1212+140delinsA...