Canonical Allele Identifier: CA1190276471

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677795_114677827delinsCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT , CM000663.2:g.114677795_114677827delinsCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	GRCh38
NC_000001.10:g.115220416_115220448delinsCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT , CM000663.1:g.115220416_115220448delinsCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	GRCh37
NC_000001.9:g.115021939_115021971delinsCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	NCBI36
NG_008012.1:g.22729_22761delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+83_1212+115delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	ENSP00000358551.4:n.1212+83_1212+115delin...
ENST00000520113.7:c.1224+83_1224+115delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG MANE Select	ENSP00000430075.3:n.1224+83_1224+115delin...
ENST00000637080.1:c.1007+83_1007+115delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	ENSP00000489753.1:n.1007+83_1007+115delin...
ENST00000639077.1:n.889+83_889+115delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG
ENST00000369538.3:c.1311+83_1311+115delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	ENSP00000358551.3:n.1311+83_1311+115delin...
ENST00000520113.6:c.1323+83_1323+115delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	ENSP00000430075.2:n.1323+83_1323+115delin...
NM_000036.2:c.1323+83_1323+115delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	NP_000027.2:n.1323+83_1323+115delinsAGGAA...
NM_001172626.1:c.1311+83_1311+115delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	NP_001166097.1:n.1311+83_1311+115delinsAG...
NM_000036.3:c.1224+83_1224+115delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG MANE Select	NP_000027.3:n.1224+83_1224+115delinsAGGAA...
NM_001172626.2:c.1212+83_1212+115delinsAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	NP_001166097.2:n.1212+83_1212+115delinsAG...