Canonical Allele Identifier: CA1190276454

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677787_114677799delinsTTCCCTCTCTCCC , CM000663.2:g.114677787_114677799delinsTTCCCTCTCTCCC	GRCh38
NC_000001.10:g.115220408_115220420delinsTTCCCTCTCTCCC , CM000663.1:g.115220408_115220420delinsTTCCCTCTCTCCC	GRCh37
NC_000001.9:g.115021931_115021943delinsTTCCCTCTCTCCC	NCBI36
NG_008012.1:g.22757_22769delinsGGGAGAGAGGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+111_1212+123delinsGGGAGAGAGGGAA	ENSP00000358551.4:n.1212+111_1212+123delinsGGGAGAGAGGGAA
ENST00000520113.7:c.1224+111_1224+123delinsGGGAGAGAGGGAA MANE Select	ENSP00000430075.3:n.1224+111_1224+123delinsGGGAGAGAGGGAA
ENST00000637080.1:c.1007+111_1007+123delinsGGGAGAGAGGGAA	ENSP00000489753.1:n.1007+111_1007+123delinsGGGAGAGAGGGAA
ENST00000639077.1:n.889+111_889+123delinsGGGAGAGAGGGAA
ENST00000369538.3:c.1311+111_1311+123delinsGGGAGAGAGGGAA	ENSP00000358551.3:n.1311+111_1311+123delinsGGGAGAGAGGGAA
ENST00000520113.6:c.1323+111_1323+123delinsGGGAGAGAGGGAA	ENSP00000430075.2:n.1323+111_1323+123delinsGGGAGAGAGGGAA
NM_000036.2:c.1323+111_1323+123delinsGGGAGAGAGGGAA	NP_000027.2:n.1323+111_1323+123delinsGGGAGAGAGGGAA
NM_001172626.1:c.1311+111_1311+123delinsGGGAGAGAGGGAA	NP_001166097.1:n.1311+111_1311+123delinsGGGAGAGAGGGAA
NM_000036.3:c.1224+111_1224+123delinsGGGAGAGAGGGAA MANE Select	NP_000027.3:n.1224+111_1224+123delinsGGGAGAGAGGGAA
NM_001172626.2:c.1212+111_1212+123delinsGGGAGAGAGGGAA	NP_001166097.2:n.1212+111_1212+123delinsGGGAGAGAGGGAA