Canonical Allele Identifier: CA913111820

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107315521_107315522del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107675076_107675077del , CM000669.2:g.107675076_107675077del	GRCh38
NC_000007.13:g.107315521_107315522del , CM000669.1:g.107315521_107315522del	GRCh37
NC_000007.12:g.107102757_107102758del	NCBI36
NG_008489.1:g.19442_19443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.732_733del MANE Select	ENSP00000494017.1:p.Asn246LeufsTer13
ENST00000265715.7:c.732_733del	ENSP00000265715.3:p.Asn246LeufsTer13
NM_000441.1:c.732_733del	NP_000432.1:p.Asn246LeufsTer13
XM_005250425.1:c.732_733del	XP_005250482.1:p.Asn246LeufsTer13
XM_006716025.2:c.732_733del	XP_006716088.1:p.Asn246LeufsTer13
XM_005250425.2:c.732_733del	XP_005250482.1:p.Asn246LeufsTer13
XM_006716025.3:c.732_733del	XP_006716088.1:p.Asn246LeufsTer13
XM_017012318.1:c.732_733del	XP_016867807.1:p.Asn246LeufsTer13
NM_000441.2:c.732_733del MANE Select	NP_000432.1:p.Asn246LeufsTer13