Canonical Allele Identifier: CA563057147

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1561560164
• gnomAD v2: 5-131705615-CGCCGCGTTCCCCGACCCCAG-C
• gnomAD v4: 5-132369923-CGCCGCGTTCCCCGACCCCAG-C
• MyVariant Identifiers: chr5:g.131705616_131705635del (hg19) ; chr5:g.132369924_132369943del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132369930_132369949del , CM000667.2:g.132369930_132369949del	GRCh38
NC_000005.9:g.131705622_131705641del , CM000667.1:g.131705622_131705641del	GRCh37
NC_000005.8:g.131733521_131733540del	NCBI36
NG_008982.1:g.5222_5241del
NG_008982.2:g.5227_5246del

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.-43_-24del	ENSP00000388838.2:n.-43_-24del
ENST00000435065.7:c.-43_-24del	ENSP00000402760.2:n.-43_-24del
ENST00000448810.6:c.-43_-24del	ENSP00000401860.2:n.-43_-24del
ENST00000686757.1:c.-43_-24del	ENSP00000510721.1:n.-43_-24del
ENST00000687740.1:n.92_111del
ENST00000689271.1:c.-43_-24del	ENSP00000510797.1:n.-43_-24del
ENST00000690900.1:c.-43_-24del	ENSP00000510703.1:n.-43_-24del
ENST00000692413.1:c.-43_-24del	ENSP00000509374.1:n.-43_-24del
ENST00000693308.1:c.-43_-24del	ENSP00000509770.1:n.-43_-24del
ENST00000693763.1:n.92_111del
ENST00000245407.8:c.-43_-24del MANE Select	ENSP00000245407.3:n.-43_-24del
ENST00000245407.7:c.-43_-24del	ENSP00000245407.3:n.-43_-24del
ENST00000437841.6:c.-43_-24del	ENSP00000400553.1:n.-43_-24del
NM_001308122.1:c.-43_-24del	NP_001295051.1:n.-43_-24del
NM_003060.3:c.-43_-24del	NP_003051.1:n.-43_-24del
XR_427718.1:n.227_246del
XR_948290.1:n.227_246del
XR_948291.1:n.227_246del
XR_001742215.1:n.227_246del
XR_001742216.1:n.227_246del
XR_427718.2:n.227_246del
XR_948290.2:n.227_246del
XR_948291.2:n.227_246del
NM_003060.4:c.-43_-24del MANE Select	NP_003051.1:n.-43_-24del
NM_001308122.2:c.-43_-24del	NP_001295051.1:n.-43_-24del