Canonical Allele Identifier: CA1190276478

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677797_114677804delinsCCCTCCTT , CM000663.2:g.114677797_114677804delinsCCCTCCTT	GRCh38
NC_000001.10:g.115220418_115220425delinsCCCTCCTT , CM000663.1:g.115220418_115220425delinsCCCTCCTT	GRCh37
NC_000001.9:g.115021941_115021948delinsCCCTCCTT	NCBI36
NG_008012.1:g.22752_22759delinsAAGGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+106_1212+113delinsAAGGAGGG	ENSP00000358551.4:n.1212+106_1212+113delinsAAGGAGGG
ENST00000520113.7:c.1224+106_1224+113delinsAAGGAGGG MANE Select	ENSP00000430075.3:n.1224+106_1224+113delinsAAGGAGGG
ENST00000637080.1:c.1007+106_1007+113delinsAAGGAGGG	ENSP00000489753.1:n.1007+106_1007+113delinsAAGGAGGG
ENST00000639077.1:n.889+106_889+113delinsAAGGAGGG
ENST00000369538.3:c.1311+106_1311+113delinsAAGGAGGG	ENSP00000358551.3:n.1311+106_1311+113delinsAAGGAGGG
ENST00000520113.6:c.1323+106_1323+113delinsAAGGAGGG	ENSP00000430075.2:n.1323+106_1323+113delinsAAGGAGGG
NM_000036.2:c.1323+106_1323+113delinsAAGGAGGG	NP_000027.2:n.1323+106_1323+113delinsAAGGAGGG
NM_001172626.1:c.1311+106_1311+113delinsAAGGAGGG	NP_001166097.1:n.1311+106_1311+113delinsAAGGAGGG
NM_000036.3:c.1224+106_1224+113delinsAAGGAGGG MANE Select	NP_000027.3:n.1224+106_1224+113delinsAAGGAGGG
NM_001172626.2:c.1212+106_1212+113delinsAAGGAGGG	NP_001166097.2:n.1212+106_1212+113delinsAAGGAGGG