Canonical Allele Identifier: CA1190276455

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658036484

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677791_114677802del , CM000663.2:g.114677791_114677802del	GRCh38
NC_000001.10:g.115220412_115220423del , CM000663.1:g.115220412_115220423del	GRCh37
NC_000001.9:g.115021935_115021946del	NCBI36
NG_008012.1:g.22757_22768del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+111_1212+122del	ENSP00000358551.4:n.1212+111_1212+122del
ENST00000520113.7:c.1224+111_1224+122del MANE Select	ENSP00000430075.3:n.1224+111_1224+122del
ENST00000637080.1:c.1007+111_1007+122del	ENSP00000489753.1:n.1007+111_1007+122del
ENST00000639077.1:n.889+111_889+122del
ENST00000369538.3:c.1311+111_1311+122del	ENSP00000358551.3:n.1311+111_1311+122del
ENST00000520113.6:c.1323+111_1323+122del	ENSP00000430075.2:n.1323+111_1323+122del
NM_000036.2:c.1323+111_1323+122del	NP_000027.2:n.1323+111_1323+122del
NM_001172626.1:c.1311+111_1311+122del	NP_001166097.1:n.1311+111_1311+122del
NM_000036.3:c.1224+111_1224+122del MANE Select	NP_000027.3:n.1224+111_1224+122del
NM_001172626.2:c.1212+111_1212+122del	NP_001166097.2:n.1212+111_1212+122del