Canonical Allele Identifier: CA2647248018

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677833-C-CCTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677836_114677837insACTT , CM000663.2:g.114677836_114677837insACTT	GRCh38
NC_000001.10:g.115220457_115220458insACTT , CM000663.1:g.115220457_115220458insACTT	GRCh37
NC_000001.9:g.115021980_115021981insACTT	NCBI36
NG_008012.1:g.22722_22723insTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+76_1212+77insTAAG	ENSP00000358551.4:n.1212+76_1212+77insTAAG
ENST00000520113.7:c.1224+76_1224+77insTAAG MANE Select	ENSP00000430075.3:n.1224+76_1224+77insTAAG
ENST00000637080.1:c.1007+76_1007+77insTAAG	ENSP00000489753.1:n.1007+76_1007+77insTAAG
ENST00000639077.1:n.889+76_889+77insTAAG
ENST00000369538.3:c.1311+76_1311+77insTAAG	ENSP00000358551.3:n.1311+76_1311+77insTAAG
ENST00000520113.6:c.1323+76_1323+77insTAAG	ENSP00000430075.2:n.1323+76_1323+77insTAAG
NM_000036.2:c.1323+76_1323+77insTAAG	NP_000027.2:n.1323+76_1323+77insTAAG
NM_001172626.1:c.1311+76_1311+77insTAAG	NP_001166097.1:n.1311+76_1311+77insTAAG
NM_000036.3:c.1224+76_1224+77insTAAG MANE Select	NP_000027.3:n.1224+76_1224+77insTAAG
NM_001172626.2:c.1212+76_1212+77insTAAG	NP_001166097.2:n.1212+76_1212+77insTAAG