Canonical Allele Identifier: CA1190276530

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677831_114677834delinsTTCC , CM000663.2:g.114677831_114677834delinsTTCC	GRCh38
NC_000001.10:g.115220452_115220455delinsTTCC , CM000663.1:g.115220452_115220455delinsTTCC	GRCh37
NC_000001.9:g.115021975_115021978delinsTTCC	NCBI36
NG_008012.1:g.22722_22725delinsGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+76_1212+79delinsGGAA	ENSP00000358551.4:n.1212+76_1212+79delinsGGAA
ENST00000520113.7:c.1224+76_1224+79delinsGGAA MANE Select	ENSP00000430075.3:n.1224+76_1224+79delinsGGAA
ENST00000637080.1:c.1007+76_1007+79delinsGGAA	ENSP00000489753.1:n.1007+76_1007+79delinsGGAA
ENST00000639077.1:n.889+76_889+79delinsGGAA
ENST00000369538.3:c.1311+76_1311+79delinsGGAA	ENSP00000358551.3:n.1311+76_1311+79delinsGGAA
ENST00000520113.6:c.1323+76_1323+79delinsGGAA	ENSP00000430075.2:n.1323+76_1323+79delinsGGAA
NM_000036.2:c.1323+76_1323+79delinsGGAA	NP_000027.2:n.1323+76_1323+79delinsGGAA
NM_001172626.1:c.1311+76_1311+79delinsGGAA	NP_001166097.1:n.1311+76_1311+79delinsGGAA
NM_000036.3:c.1224+76_1224+79delinsGGAA MANE Select	NP_000027.3:n.1224+76_1224+79delinsGGAA
NM_001172626.2:c.1212+76_1212+79delinsGGAA	NP_001166097.2:n.1212+76_1212+79delinsGGAA