Canonical Allele Identifier: CA2647013845
Gene: ALX3 HGNC NCBI
STRIP1 HGNC NCBI

Linked Data

gnomAD v4: 1-110064594-CGGGCCTCAGTCAGGTCTGTGCGCA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110064600_110064623del , CM000663.2:g.110064600_110064623del GRCh38
NC_000001.10:g.110607222_110607245del , CM000663.1:g.110607222_110607245del GRCh37
NC_000001.9:g.110408745_110408768del NCBI36
NG_012039.1:g.11083_11106del

Transcript Alleles

HGVS Amino-acid change
ENST00000647563.2:c.563_586del (ALX3) MANE Select ENSP00000497310.1:p.Leu188_Ala195del
ENST00000649954.1:c.134_157del (ALX3) ENSP00000497035.1:p.Leu45_Ala52del
ENST00000369792.4:c.563_586del (ALX3) ENSP00000358807.3:p.Leu188_Ala195del
ENST00000473429.5:n.4214-7855_4214-7832del (STRIP1)
NM_006492.2:c.563_586del (ALX3) NP_006483.2:p.Leu188_Ala195del
NM_006492.3:c.563_586del (ALX3) MANE Select NP_006483.2:p.Leu188_Ala195del
Search 100 bp 5'
Search 100 bp 3'