Canonical Allele Identifier: CA2647248008

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677827-T-TTCCTTCCTTCCTTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677842_114677843insATCCTTCCTTCCTTCC , CM000663.2:g.114677842_114677843insATCCTTCCTTCCTTCC	GRCh38
NC_000001.10:g.115220463_115220464insATCCTTCCTTCCTTCC , CM000663.1:g.115220463_115220464insATCCTTCCTTCCTTCC	GRCh37
NC_000001.9:g.115021986_115021987insATCCTTCCTTCCTTCC	NCBI36
NG_008012.1:g.22728_22729insTGGAAGGAAGGAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+82_1212+83insTGGAAGGAAGGAAGGA	ENSP00000358551.4:n.1212+82_1212+83insTGGAAGGAAGGAAGGA
ENST00000520113.7:c.1224+82_1224+83insTGGAAGGAAGGAAGGA MANE Select	ENSP00000430075.3:n.1224+82_1224+83insTGGAAGGAAGGAAGGA
ENST00000637080.1:c.1007+82_1007+83insTGGAAGGAAGGAAGGA	ENSP00000489753.1:n.1007+82_1007+83insTGGAAGGAAGGAAGGA
ENST00000639077.1:n.889+82_889+83insTGGAAGGAAGGAAGGA
ENST00000369538.3:c.1311+82_1311+83insTGGAAGGAAGGAAGGA	ENSP00000358551.3:n.1311+82_1311+83insTGGAAGGAAGGAAGGA
ENST00000520113.6:c.1323+82_1323+83insTGGAAGGAAGGAAGGA	ENSP00000430075.2:n.1323+82_1323+83insTGGAAGGAAGGAAGGA
NM_000036.2:c.1323+82_1323+83insTGGAAGGAAGGAAGGA	NP_000027.2:n.1323+82_1323+83insTGGAAGGAAGGAAGGA
NM_001172626.1:c.1311+82_1311+83insTGGAAGGAAGGAAGGA	NP_001166097.1:n.1311+82_1311+83insTGGAAGGAAGGAAGGA
NM_000036.3:c.1224+82_1224+83insTGGAAGGAAGGAAGGA MANE Select	NP_000027.3:n.1224+82_1224+83insTGGAAGGAAGGAAGGA
NM_001172626.2:c.1212+82_1212+83insTGGAAGGAAGGAAGGA	NP_001166097.2:n.1212+82_1212+83insTGGAAGGAAGGAAGGA