Canonical Allele Identifier: CA2647248022

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677835-T-TTCCTTCCTTCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677846_114677847insGTCCTTCCTTCC , CM000663.2:g.114677846_114677847insGTCCTTCCTTCC	GRCh38
NC_000001.10:g.115220467_115220468insGTCCTTCCTTCC , CM000663.1:g.115220467_115220468insGTCCTTCCTTCC	GRCh37
NC_000001.9:g.115021990_115021991insGTCCTTCCTTCC	NCBI36
NG_008012.1:g.22720_22721insCGGAAGGAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+74_1212+75insCGGAAGGAAGGA	ENSP00000358551.4:n.1212+74_1212+75insCGGAAGGAAGGA
ENST00000520113.7:c.1224+74_1224+75insCGGAAGGAAGGA MANE Select	ENSP00000430075.3:n.1224+74_1224+75insCGGAAGGAAGGA
ENST00000637080.1:c.1007+74_1007+75insCGGAAGGAAGGA	ENSP00000489753.1:n.1007+74_1007+75insCGGAAGGAAGGA
ENST00000639077.1:n.889+74_889+75insCGGAAGGAAGGA
ENST00000369538.3:c.1311+74_1311+75insCGGAAGGAAGGA	ENSP00000358551.3:n.1311+74_1311+75insCGGAAGGAAGGA
ENST00000520113.6:c.1323+74_1323+75insCGGAAGGAAGGA	ENSP00000430075.2:n.1323+74_1323+75insCGGAAGGAAGGA
NM_000036.2:c.1323+74_1323+75insCGGAAGGAAGGA	NP_000027.2:n.1323+74_1323+75insCGGAAGGAAGGA
NM_001172626.1:c.1311+74_1311+75insCGGAAGGAAGGA	NP_001166097.1:n.1311+74_1311+75insCGGAAGGAAGGA
NM_000036.3:c.1224+74_1224+75insCGGAAGGAAGGA MANE Select	NP_000027.3:n.1224+74_1224+75insCGGAAGGAAGGA
NM_001172626.2:c.1212+74_1212+75insCGGAAGGAAGGA	NP_001166097.2:n.1212+74_1212+75insCGGAAGGAAGGA