Canonical Allele Identifier: CA2675203480

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390297-GATGTCTGCCTCCTGACTCATTCTCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390298_132390323del , CM000667.2:g.132390298_132390323del	GRCh38
NC_000005.9:g.131725990_131726015del , CM000667.1:g.131725990_131726015del	GRCh37
NC_000005.8:g.131753889_131753914del	NCBI36
NG_008982.1:g.25590_25615del
NG_008982.2:g.25595_25620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.894-392_894-367del	ENSP00000388838.2:n.894-392_894-367del
ENST00000435065.7:c.1125-392_1125-367del	ENSP00000402760.2:n.1125-392_1125-367del
ENST00000448810.6:c.1053-478_1053-453del	ENSP00000401860.2:n.1053-478_1053-453del
ENST00000685543.1:n.1194-392_1194-367del
ENST00000686757.1:c.*217-392_*217-367del	ENSP00000510721.1:n.*217-392_*217-367del
ENST00000687740.1:n.3738-392_3738-367del
ENST00000688151.1:n.2363-392_2363-367del
ENST00000689271.1:c.900-392_900-367del	ENSP00000510797.1:n.900-392_900-367del
ENST00000690900.1:c.*217-392_*217-367del	ENSP00000510703.1:n.*217-392_*217-367del
ENST00000692212.1:n.2273_2298del
ENST00000692355.1:c.306-392_306-367del
ENST00000692413.1:c.1035-392_1035-367del	ENSP00000509374.1:n.1035-392_1035-367del
ENST00000692825.1:c.1121-392_1121-367del	ENSP00000509447.1:n.1121-392_1121-367del
ENST00000693308.1:c.1101-392_1101-367del	ENSP00000509770.1:n.1101-392_1101-367del
ENST00000693763.1:n.2213-392_2213-367del
ENST00000245407.8:c.1053-392_1053-367del MANE Select	ENSP00000245407.3:n.1053-392_1053-367del
ENST00000245407.7:c.1053-392_1053-367del	ENSP00000245407.3:n.1053-392_1053-367del
ENST00000435065.6:c.1125-392_1125-367del	ENSP00000402760.2:n.1125-392_1125-367del
ENST00000447841.5:c.111+1277_111+1302del
ENST00000448810.5:c.401-478_401-453del
ENST00000461013.5:n.8475-392_8475-367del
ENST00000475308.1:n.1339_1364del
ENST00000479605.5:n.156-392_156-367del
NM_001308122.1:c.1125-392_1125-367del	NP_001295051.1:n.1125-392_1125-367del
NM_003060.3:c.1053-392_1053-367del	NP_003051.1:n.1053-392_1053-367del
XM_011543590.1:c.435-392_435-367del	XP_011541892.1:n.435-392_435-367del
XR_427718.1:n.1413-392_1413-367del
XR_948290.1:n.1393+1277_1393+1302del
XR_948291.1:n.1407-392_1407-367del
XM_011543590.2:c.435-392_435-367del	XP_011541892.1:n.435-392_435-367del
XM_017009778.2:c.525-392_525-367del	XP_016865267.1:n.525-392_525-367del
XR_001742215.1:n.1394-478_1394-453del
XR_001742216.1:n.1413-478_1413-453del
XR_427718.2:n.1413-392_1413-367del
XR_948290.2:n.1393+1277_1393+1302del
XR_948291.2:n.1407-392_1407-367del
NM_003060.4:c.1053-392_1053-367del MANE Select	NP_003051.1:n.1053-392_1053-367del
NM_001308122.2:c.1125-392_1125-367del	NP_001295051.1:n.1125-392_1125-367del