Canonical Allele Identifier: CA1190276482

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677799_114677831delinsCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT , CM000663.2:g.114677799_114677831delinsCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	GRCh38
NC_000001.10:g.115220420_115220452delinsCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT , CM000663.1:g.115220420_115220452delinsCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	GRCh37
NC_000001.9:g.115021943_115021975delinsCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	NCBI36
NG_008012.1:g.22725_22757delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+79_1212+111delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	ENSP00000358551.4:n.1212+79_1212+111delinsAGGAAGGAAGGAAGGAAGG...
ENST00000520113.7:c.1224+79_1224+111delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG MANE Select	ENSP00000430075.3:n.1224+79_1224+111delinsAGGAAGGAAGGAAGGAAGG...
ENST00000637080.1:c.1007+79_1007+111delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	ENSP00000489753.1:n.1007+79_1007+111delinsAGGAAGGAAGGAAGGAAGG...
ENST00000639077.1:n.889+79_889+111delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG
ENST00000369538.3:c.1311+79_1311+111delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	ENSP00000358551.3:n.1311+79_1311+111delinsAGGAAGGAAGGAAGGAAGG...
ENST00000520113.6:c.1323+79_1323+111delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	ENSP00000430075.2:n.1323+79_1323+111delinsAGGAAGGAAGGAAGGAAGG...
NM_000036.2:c.1323+79_1323+111delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	NP_000027.2:n.1323+79_1323+111delinsAGGAAGGAAGGAAGGAAGGAAGGAA...
NM_001172626.1:c.1311+79_1311+111delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	NP_001166097.1:n.1311+79_1311+111delinsAGGAAGGAAGGAAGGAAGGAAG...
NM_000036.3:c.1224+79_1224+111delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG MANE Select	NP_000027.3:n.1224+79_1224+111delinsAGGAAGGAAGGAAGGAAGGAAGGAA...
NM_001172626.2:c.1212+79_1212+111delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	NP_001166097.2:n.1212+79_1212+111delinsAGGAAGGAAGGAAGGAAGGAAG...