Canonical Allele Identifier: CA2578402054

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385500_132385502del , CM000667.2:g.132385500_132385502del	GRCh38
NC_000005.9:g.131721192_131721194del , CM000667.1:g.131721192_131721194del	GRCh37
NC_000005.8:g.131749091_131749093del	NCBI36
NG_008982.1:g.20792_20794del
NG_008982.2:g.20797_20799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1186_665+1188del	ENSP00000388838.2:n.665+1186_665+1188del
ENST00000435065.7:c.896+1_896+3del
ENST00000448810.6:c.824+1_824+3del
ENST00000686757.1:c.843+1_843+3del
ENST00000687740.1:n.1985_1987del
ENST00000688151.1:n.2016+1_2016+3del
ENST00000689271.1:c.671+1180_671+1182del	ENSP00000510797.1:n.671+1180_671+1182del
ENST00000690900.1:c.795+1_795+3del
ENST00000692212.1:n.650+1_650+3del
ENST00000692355.1:c.204+1199_204+1201del
ENST00000692413.1:c.843+1_843+3del
ENST00000692825.1:c.892+1_892+3del
ENST00000693308.1:c.837+1_837+3del
ENST00000693763.1:n.1984+1_1984+3del
ENST00000245407.8:c.824+1_824+3del
ENST00000245407.7:c.824+1_824+3del
ENST00000415928.5:c.593+1_593+3del
ENST00000435065.6:c.896+1_896+3del
ENST00000437841.6:c.*139+1_*139+3del
ENST00000448810.5:c.172+1_172+3del
ENST00000461013.5:n.8246+1_8246+3del
NM_001308122.1:c.896+1_896+3del
NM_003060.3:c.824+1_824+3del
XM_011543590.1:c.206+1_206+3del
XR_427718.1:n.1184+1_1184+3del
XR_948290.1:n.1165+1_1165+3del
XR_948291.1:n.1178+1_1178+3del
XM_011543590.2:c.206+1_206+3del
XM_017009778.2:c.296+1_296+3del
XR_001742215.1:n.1165+1_1165+3del
XR_001742216.1:n.1184+1_1184+3del
XR_427718.2:n.1184+1_1184+3del
XR_948290.2:n.1165+1_1165+3del
XR_948291.2:n.1178+1_1178+3del
NM_003060.4:c.824+1_824+3del
NM_001308122.2:c.896+1_896+3del