Canonical Allele Identifier: CA174996

Gene: TXNL4A

Linked Data

• ClinVar Variation Id: 162203
• ClinVar RCV Id: RCV000149583 ; RCV002225453
• dbSNP Id: rs535089924
• gnomAD v2: 18-77748580-ACGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAG-A
• gnomAD v3: 18-79988580-ACGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAG-A
• gnomAD v4: 18-79988580-ACGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAG-A
• MyVariant Identifiers: chr18:g.77748581_77748614del (hg19) ; chr18:g.79988581_79988614del (hg38)
• PubMed: PMID:1342861 ; PMID:14564154 ; PMID:25434003 ; PMID:27413799

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.79988603_79988636del , CM000680.2:g.79988603_79988636del	GRCh38
NC_000018.9:g.77748603_77748636del , CM000680.1:g.77748603_77748636del	GRCh37
NC_000018.8:g.75849591_75849624del	NCBI36
NG_042061.1:g.50322_50355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585474.5:c.-60-10913_-60-10880del	ENSP00000465572.1:n.-60-10913_-60-10880del
ENST00000592957.1:c.-60-10913_-60-10880del	ENSP00000465493.1:n.-60-10913_-60-10880del
NM_001305563.1:c.-60-10913_-60-10880del	NP_001292492.1:n.-60-10913_-60-10880del
NM_001305564.1:c.-60-10913_-60-10880del	NP_001292493.1:n.-60-10913_-60-10880del
NM_001305563.2:c.-60-10913_-60-10880del	NP_001292492.1:n.-60-10913_-60-10880del
NM_001305564.2:c.-60-10913_-60-10880del	NP_001292493.1:n.-60-10913_-60-10880del