Canonical Allele Identifier: CA2695203122

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690193_107690194del , CM000669.2:g.107690193_107690194del	GRCh38
NC_000007.13:g.107330638_107330639del , CM000669.1:g.107330638_107330639del	GRCh37
NC_000007.12:g.107117874_107117875del	NCBI36
NG_008489.1:g.34559_34560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1219_1220del MANE Select	ENSP00000494017.1:p.Leu407PhefsTer?
ENST00000265715.7:c.1219_1220del	ENSP00000265715.3:p.Leu407PhefsTer?
NM_000441.1:c.1219_1220del	NP_000432.1:p.Leu407PhefsTer?
XM_005250425.1:c.1219_1220del	XP_005250482.1:p.Leu407PhefsTer?
XM_006716025.2:c.1219_1220del	XP_006716088.1:p.Leu407PhefsTer?
XM_005250425.2:c.1219_1220del	XP_005250482.1:p.Leu407PhefsTer?
XM_006716025.3:c.1219_1220del	XP_006716088.1:p.Leu407PhefsTer?
XM_017012318.1:c.1219_1220del	XP_016867807.1:p.Leu407PhefsTer?
NM_000441.2:c.1219_1220del MANE Select	NP_000432.1:p.Leu407PhefsTer?