Canonical Allele Identifier: CA2647253934

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684468-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684471del , CM000663.2:g.114684471del	GRCh38
NC_000001.10:g.115227092del , CM000663.1:g.115227092del	GRCh37
NC_000001.9:g.115028615del	NCBI36
NG_008012.1:g.16087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-105del	ENSP00000358551.4:n.370-105del
ENST00000520113.7:c.382-105del MANE Select	ENSP00000430075.3:n.382-105del
ENST00000637080.1:c.385-105del	ENSP00000489753.1:n.385-105del
ENST00000639077.1:n.21del
ENST00000369538.3:c.469-105del	ENSP00000358551.3:n.469-105del
ENST00000485564.3:n.256-105del
ENST00000520113.6:c.481-105del	ENSP00000430075.2:n.481-105del
NM_000036.2:c.481-105del	NP_000027.2:n.481-105del
NM_001172626.1:c.469-105del	NP_001166097.1:n.469-105del
NM_000036.3:c.382-105del MANE Select	NP_000027.3:n.382-105del
NM_001172626.2:c.370-105del	NP_001166097.2:n.370-105del