Canonical Allele Identifier: CA1190276452

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677786_114677802delinsTTTCCCTCTCTCCCTCC , CM000663.2:g.114677786_114677802delinsTTTCCCTCTCTCCCTCC	GRCh38
NC_000001.10:g.115220407_115220423delinsTTTCCCTCTCTCCCTCC , CM000663.1:g.115220407_115220423delinsTTTCCCTCTCTCCCTCC	GRCh37
NC_000001.9:g.115021930_115021946delinsTTTCCCTCTCTCCCTCC	NCBI36
NG_008012.1:g.22754_22770delinsGGAGGGAGAGAGGGAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+108_1212+124delinsGGAGGGAGAGAGGGAAA	ENSP00000358551.4:n.1212+108_1212+124deli...
ENST00000520113.7:c.1224+108_1224+124delinsGGAGGGAGAGAGGGAAA MANE Select	ENSP00000430075.3:n.1224+108_1224+124deli...
ENST00000637080.1:c.1007+108_1007+124delinsGGAGGGAGAGAGGGAAA	ENSP00000489753.1:n.1007+108_1007+124deli...
ENST00000639077.1:n.889+108_889+124delinsGGAGGGAGAGAGGGAAA
ENST00000369538.3:c.1311+108_1311+124delinsGGAGGGAGAGAGGGAAA	ENSP00000358551.3:n.1311+108_1311+124deli...
ENST00000520113.6:c.1323+108_1323+124delinsGGAGGGAGAGAGGGAAA	ENSP00000430075.2:n.1323+108_1323+124deli...
NM_000036.2:c.1323+108_1323+124delinsGGAGGGAGAGAGGGAAA	NP_000027.2:n.1323+108_1323+124delinsGGAG...
NM_001172626.1:c.1311+108_1311+124delinsGGAGGGAGAGAGGGAAA	NP_001166097.1:n.1311+108_1311+124delinsG...
NM_000036.3:c.1224+108_1224+124delinsGGAGGGAGAGAGGGAAA MANE Select	NP_000027.3:n.1224+108_1224+124delinsGGAG...
NM_001172626.2:c.1212+108_1212+124delinsGGAGGGAGAGAGGGAAA	NP_001166097.2:n.1212+108_1212+124delinsG...