Canonical Allele Identifier: CA1190276512

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677814_114677816delinsCTT , CM000663.2:g.114677814_114677816delinsCTT	GRCh38
NC_000001.10:g.115220435_115220437delinsCTT , CM000663.1:g.115220435_115220437delinsCTT	GRCh37
NC_000001.9:g.115021958_115021960delinsCTT	NCBI36
NG_008012.1:g.22740_22742delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+94_1212+96delinsAAG	ENSP00000358551.4:n.1212+94_1212+96delinsAAG
ENST00000520113.7:c.1224+94_1224+96delinsAAG MANE Select	ENSP00000430075.3:n.1224+94_1224+96delinsAAG
ENST00000637080.1:c.1007+94_1007+96delinsAAG	ENSP00000489753.1:n.1007+94_1007+96delinsAAG
ENST00000639077.1:n.889+94_889+96delinsAAG
ENST00000369538.3:c.1311+94_1311+96delinsAAG	ENSP00000358551.3:n.1311+94_1311+96delinsAAG
ENST00000520113.6:c.1323+94_1323+96delinsAAG	ENSP00000430075.2:n.1323+94_1323+96delinsAAG
NM_000036.2:c.1323+94_1323+96delinsAAG	NP_000027.2:n.1323+94_1323+96delinsAAG
NM_001172626.1:c.1311+94_1311+96delinsAAG	NP_001166097.1:n.1311+94_1311+96delinsAAG
NM_000036.3:c.1224+94_1224+96delinsAAG MANE Select	NP_000027.3:n.1224+94_1224+96delinsAAG
NM_001172626.2:c.1212+94_1212+96delinsAAG	NP_001166097.2:n.1212+94_1212+96delinsAAG