Canonical Allele Identifier: CA913111819

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107341576_107341578del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701132_107701134del , CM000669.2:g.107701132_107701134del	GRCh38
NC_000007.13:g.107341577_107341579del , CM000669.1:g.107341577_107341579del	GRCh37
NC_000007.12:g.107128813_107128815del	NCBI36
NG_008489.1:g.45498_45500del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1739_1741del MANE Select	ENSP00000494017.1:p.Lys580del
ENST00000644846.1:c.450_452del
ENST00000265715.7:c.1739_1741del	ENSP00000265715.3:p.Lys580del
ENST00000480841.5:n.588_590del
ENST00000492030.2:n.91-695_91-693del
NM_000441.1:c.1739_1741del	NP_000432.1:p.Lys580del
XM_005250425.1:c.1739_1741del	XP_005250482.1:p.Lys580del
XM_005250425.2:c.1739_1741del	XP_005250482.1:p.Lys580del
XM_017012318.1:c.1661_1663del	XP_016867807.1:p.Lys554del
NM_000441.2:c.1739_1741del MANE Select	NP_000432.1:p.Lys580del