Canonical Allele Identifier: CA1190276468

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677795_114677819delinsCTCCCTCCTTCCTTCCTTCCTTCCT , CM000663.2:g.114677795_114677819delinsCTCCCTCCTTCCTTCCTTCCTTCCT	GRCh38
NC_000001.10:g.115220416_115220440delinsCTCCCTCCTTCCTTCCTTCCTTCCT , CM000663.1:g.115220416_115220440delinsCTCCCTCCTTCCTTCCTTCCTTCCT	GRCh37
NC_000001.9:g.115021939_115021963delinsCTCCCTCCTTCCTTCCTTCCTTCCT	NCBI36
NG_008012.1:g.22737_22761delinsAGGAAGGAAGGAAGGAAGGAGGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+91_1212+115delinsAGGAAGGAAGGAAGGAAGGAGGGAG	ENSP00000358551.4:n.1212+91_1212+115delin...
ENST00000520113.7:c.1224+91_1224+115delinsAGGAAGGAAGGAAGGAAGGAGGGAG MANE Select	ENSP00000430075.3:n.1224+91_1224+115delin...
ENST00000637080.1:c.1007+91_1007+115delinsAGGAAGGAAGGAAGGAAGGAGGGAG	ENSP00000489753.1:n.1007+91_1007+115delin...
ENST00000639077.1:n.889+91_889+115delinsAGGAAGGAAGGAAGGAAGGAGGGAG
ENST00000369538.3:c.1311+91_1311+115delinsAGGAAGGAAGGAAGGAAGGAGGGAG	ENSP00000358551.3:n.1311+91_1311+115delin...
ENST00000520113.6:c.1323+91_1323+115delinsAGGAAGGAAGGAAGGAAGGAGGGAG	ENSP00000430075.2:n.1323+91_1323+115delin...
NM_000036.2:c.1323+91_1323+115delinsAGGAAGGAAGGAAGGAAGGAGGGAG	NP_000027.2:n.1323+91_1323+115delinsAGGAA...
NM_001172626.1:c.1311+91_1311+115delinsAGGAAGGAAGGAAGGAAGGAGGGAG	NP_001166097.1:n.1311+91_1311+115delinsAG...
NM_000036.3:c.1224+91_1224+115delinsAGGAAGGAAGGAAGGAAGGAGGGAG MANE Select	NP_000027.3:n.1224+91_1224+115delinsAGGAA...
NM_001172626.2:c.1212+91_1212+115delinsAGGAAGGAAGGAAGGAAGGAGGGAG	NP_001166097.2:n.1212+91_1212+115delinsAG...