Canonical Allele Identifier: CA913111809
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689196_107689197del , CM000669.2:g.107689196_107689197del GRCh38
NC_000007.13:g.107329641_107329642del , CM000669.1:g.107329641_107329642del GRCh37
NC_000007.12:g.107116877_107116878del NCBI36
NG_008489.1:g.33562_33563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1145_1146del MANE Select ENSP00000494017.1:p.Asn382ThrfsTer?
ENST00000265715.7:c.1145_1146del ENSP00000265715.3:p.Asn382ThrfsTer?
NM_000441.1:c.1145_1146del NP_000432.1:p.Asn382ThrfsTer?
XM_005250425.1:c.1145_1146del XP_005250482.1:p.Asn382ThrfsTer?
XM_006716025.2:c.1145_1146del XP_006716088.1:p.Asn382ThrfsTer?
XM_005250425.2:c.1145_1146del XP_005250482.1:p.Asn382ThrfsTer?
XM_006716025.3:c.1145_1146del XP_006716088.1:p.Asn382ThrfsTer?
XM_017012318.1:c.1145_1146del XP_016867807.1:p.Asn382ThrfsTer?
NM_000441.2:c.1145_1146del MANE Select NP_000432.1:p.Asn382ThrfsTer?