Canonical Allele Identifier: CA634058692
Gene: SLC27A5 HGNC NCBI
ZNF446 HGNC NCBI

Linked Data

dbSNP Id: rs1568621697
gnomAD v2: 19-58999338-AGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATG-A
gnomAD v3: 19-58487971-AGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATG-A
gnomAD v4: 19-58487971-AGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATG-A
MyVariant Identifiers: chr19:g.58999350_58999450delinsGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG (hg19) chr19:g.58487983_58488083delinsGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.58487983_58488038del , CM000681.2:g.58487983_58488038del GRCh38
NC_000019.9:g.58999350_58999405del , CM000681.1:g.58999350_58999405del GRCh37
NC_000019.8:g.63691162_63691217del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000595851.5:c.*22-4381_*22-4326del (SLC27A5) ENSP00000469512.1:n.*22-4381_*22-4326del
NM_001304453.1:c.803-1307_803-1252del (ZNF446) NP_001291382.1:n.803-1307_803-1252del
XM_006723266.2:c.803-1307_803-1252del (ZNF446) XP_006723329.1:n.803-1307_803-1252del
XM_006723266.4:c.803-1307_803-1252del (ZNF446) XP_006723329.1:n.803-1307_803-1252del
XM_017026950.2:c.1005-1307_1005-1252del (ZNF446) XP_016882439.1:n.1005-1307_1005-1252del
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