Canonical Allele Identifier: CA803966705

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 579832
• ClinVar RCV Id: RCV000703209
• dbSNP Id: rs1173523095
• gnomAD v3: 5-132385360-ATAT-A
• gnomAD v4: 5-132385360-ATAT-A
• MyVariant Identifiers: chr5:g.131721054_131721056del (hg19) ; chr5:g.131721053_131721055del (hg19) ; chr5:g.132385362_132385364del (hg38) ; chr5:g.132385361_132385363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385362_132385364del , CM000667.2:g.132385362_132385364del	GRCh38
NC_000005.9:g.131721054_131721056del , CM000667.1:g.131721054_131721056del	GRCh37
NC_000005.8:g.131748953_131748955del	NCBI36
NG_008982.1:g.20654_20656del
NG_008982.2:g.20659_20661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1048_665+1050del	ENSP00000388838.2:n.665+1048_665+1050del
ENST00000435065.7:c.759_761del	ENSP00000402760.2:p.Phe254del
ENST00000448810.6:c.687_689del	ENSP00000401860.2:p.Phe230del
ENST00000686757.1:c.706_708del	ENSP00000510721.1:p.Ile236del
ENST00000687740.1:n.1847_1849del
ENST00000688151.1:n.1879_1881del
ENST00000689271.1:c.671+1042_671+1044del	ENSP00000510797.1:n.671+1042_671+1044del
ENST00000690900.1:c.672-14_672-12del	ENSP00000510703.1:n.672-14_672-12del
ENST00000692212.1:n.513_515del
ENST00000692355.1:c.204+1061_204+1063del
ENST00000692413.1:c.706_708del	ENSP00000509374.1:p.Ile236del
ENST00000692825.1:c.755_757del	ENSP00000509447.1:n.755_757del
ENST00000693308.1:c.700_702del	ENSP00000509770.1:p.Ile234del
ENST00000693763.1:n.1847_1849del
ENST00000245407.8:c.687_689del MANE Select	ENSP00000245407.3:p.Phe230del
ENST00000245407.7:c.687_689del	ENSP00000245407.3:p.Phe230del
ENST00000415928.5:c.456_458del	ENSP00000388838.1:p.Phe153del
ENST00000435065.6:c.759_761del	ENSP00000402760.2:p.Phe254del
ENST00000437841.6:c.*2_*4del	ENSP00000400553.1:n.*2_*4del
ENST00000448810.5:c.35_37del
ENST00000461013.5:n.8109_8111del
NM_001308122.1:c.759_761del	NP_001295051.1:p.Phe254del
NM_003060.3:c.687_689del	NP_003051.1:p.Phe230del
XM_011543590.1:c.69_71del	XP_011541892.1:p.Phe24del
XR_427718.1:n.1047_1049del
XR_948290.1:n.1028_1030del
XR_948291.1:n.1041_1043del
XM_011543590.2:c.69_71del	XP_011541892.1:p.Phe24del
XM_017009778.2:c.159_161del	XP_016865267.1:p.Phe54del
XR_001742215.1:n.1028_1030del
XR_001742216.1:n.1047_1049del
XR_427718.2:n.1047_1049del
XR_948290.2:n.1028_1030del
XR_948291.2:n.1041_1043del
NM_003060.4:c.687_689del MANE Select	NP_003051.1:p.Phe230del
NM_001308122.2:c.759_761del	NP_001295051.1:p.Phe254del