Canonical Allele Identifier: CA10575497
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 6415
ClinVar RCV Id: RCV000006784

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385329_132387025del , CM000667.2:g.132385329_132387025del GRCh38
NC_000005.9:g.131721021_131722717del , CM000667.1:g.131721021_131722717del GRCh37
NC_000005.8:g.131748920_131750616del NCBI36
NG_008982.1:g.20621_22317del
NG_008982.2:g.20626_22322del

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.665+1015_666del
ENST00000435065.7:c.726_897del
ENST00000448810.6:c.654_825del
ENST00000686757.1:c.673_844del
ENST00000687740.1:n.1814_3510del
ENST00000688151.1:n.1846_2135del
ENST00000689271.1:c.671+1009_672del
ENST00000690900.1:c.672-47_796del
ENST00000692212.1:n.480_769del
ENST00000692355.1:c.204+1028_205-1896del
ENST00000692413.1:c.673_844-37del
ENST00000692825.1:c.722_893del
ENST00000693308.1:c.667_873del
ENST00000693763.1:n.1814_1985del
ENST00000245407.8:c.654_825del
ENST00000245407.7:c.654_825del
ENST00000415928.5:c.423_594del
ENST00000435065.6:c.726_897del
ENST00000437841.6:c.395_*140del
ENST00000461013.5:n.8076_8247del
NM_001308122.1:c.726_897del
NM_003060.3:c.654_825del
XM_011543590.1:c.36_207del
XR_427718.1:n.1014_1185del
XR_948290.1:n.995_1166del
XR_948291.1:n.1008_1179del
XM_011543590.2:c.36_207del
XM_017009778.2:c.126_297del
XR_001742215.1:n.995_1166del
XR_001742216.1:n.1014_1185del
XR_427718.2:n.1014_1185del
XR_948290.2:n.995_1166del
XR_948291.2:n.1008_1179del
NM_003060.4:c.654_825del
NM_001308122.2:c.726_897del