Canonical Allele Identifier: CA2664004888
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240869045-CACTCGGGGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869046_240869054del , CM000664.2:g.240869046_240869054del GRCh38
NC_000002.11:g.241808463_241808471del , CM000664.1:g.241808463_241808471del GRCh37
NC_000002.10:g.241457136_241457144del NCBI36
NG_008005.1:g.5302_5310del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.165+16_165+24del MANE Select ENSP00000302620.3:n.165+16_165+24del
ENST00000307503.3:c.165+16_165+24del ENSP00000302620.3:n.165+16_165+24del
ENST00000472436.1:n.185+16_185+24del
NM_000030.2:c.165+16_165+24del NP_000021.1:n.165+16_165+24del
XR_924060.1:n.405+1179_405+1187del
NM_000030.3:c.165+16_165+24del MANE Select NP_000021.1:n.165+16_165+24del
Search 100 bp 5'
Search 100 bp 3'