Canonical Allele Identifier: CA2675200010

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132385314-C-CTTGTTTTGAACAGGGACAGAAATTCTTGGCAAGTCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385317_132385353dup , CM000667.2:g.132385317_132385353dup	GRCh38
NC_000005.9:g.131721009_131721045dup , CM000667.1:g.131721009_131721045dup	GRCh37
NC_000005.8:g.131748908_131748944dup	NCBI36
NG_008982.1:g.20609_20645dup
NG_008982.2:g.20614_20650dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1003_665+1039dup	ENSP00000388838.2:n.665+1003_665+1039dup
ENST00000435065.7:c.725-11_750dup
ENST00000448810.6:c.653-11_678dup
ENST00000686757.1:c.672-11_697dup
ENST00000687740.1:n.1802_1838dup
ENST00000688151.1:n.1845-11_1870dup
ENST00000689271.1:c.671+997_671+1033dup	ENSP00000510797.1:n.671+997_671+1033dup
ENST00000690900.1:c.672-59_672-23dup	ENSP00000510703.1:n.672-59_672-23dup
ENST00000692212.1:n.468_504dup
ENST00000692355.1:c.204+1016_204+1052dup
ENST00000692413.1:c.672-11_697dup
ENST00000692825.1:c.721-11_746dup
ENST00000693308.1:c.666-11_691dup
ENST00000693763.1:n.1802_1838dup
ENST00000245407.8:c.653-11_678dup
ENST00000245407.7:c.653-11_678dup
ENST00000415928.5:c.422-11_447dup
ENST00000435065.6:c.725-11_750dup
ENST00000437841.6:c.394-11_419dup
ENST00000461013.5:n.8075-11_8100dup
NM_001308122.1:c.725-11_750dup
NM_003060.3:c.653-11_678dup
XM_011543590.1:c.35-11_60dup
XR_427718.1:n.1013-11_1038dup
XR_948290.1:n.994-11_1019dup
XR_948291.1:n.1007-11_1032dup
XM_011543590.2:c.35-11_60dup
XM_017009778.2:c.125-11_150dup
XR_001742215.1:n.994-11_1019dup
XR_001742216.1:n.1013-11_1038dup
XR_427718.2:n.1013-11_1038dup
XR_948290.2:n.994-11_1019dup
XR_948291.2:n.1007-11_1032dup
NM_003060.4:c.653-11_678dup
NM_001308122.2:c.725-11_750dup