Canonical Allele Identifier: CA127213203

Gene: SLC22A5

Linked Data

• dbSNP Id: rs370074835
• gnomAD v2: 5-131729793-GAT-G
• gnomAD v3: 5-132394101-GAT-G
• gnomAD v4: 5-132394101-GAT-G
• MyVariant Identifiers: chr5:g.131729794_131729795del (hg19) ; chr5:g.132394102_132394103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394104_132394105del , CM000667.2:g.132394104_132394105del	GRCh38
NC_000005.9:g.131729796_131729797del , CM000667.1:g.131729796_131729797del	GRCh37
NC_000005.8:g.131757695_131757696del	NCBI36
NG_008982.1:g.29396_29397del
NG_008982.2:g.29401_29402del

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1292-81_1292-80del	ENSP00000388838.2:n.1292-81_1292-80del
ENST00000435065.7:c.1659-81_1659-80del	ENSP00000402760.2:n.1659-81_1659-80del
ENST00000448810.6:c.*439-81_*439-80del	ENSP00000401860.2:n.*439-81_*439-80del
ENST00000685543.1:n.1728-81_1728-80del
ENST00000686757.1:c.*751-81_*751-80del	ENSP00000510721.1:n.*751-81_*751-80del
ENST00000686868.1:n.579-81_579-80del
ENST00000687740.1:n.4272-81_4272-80del
ENST00000688151.1:n.2897-81_2897-80del
ENST00000689271.1:c.1434-81_1434-80del	ENSP00000510797.1:n.1434-81_1434-80del
ENST00000690900.1:c.*751-81_*751-80del	ENSP00000510703.1:n.*751-81_*751-80del
ENST00000692212.1:n.4727-81_4727-80del
ENST00000692355.1:c.840-81_840-80del
ENST00000692413.1:c.1569-81_1569-80del	ENSP00000509374.1:n.1569-81_1569-80del
ENST00000692825.1:c.1655-81_1655-80del	ENSP00000509447.1:n.1655-81_1655-80del
ENST00000693308.1:c.1635-81_1635-80del	ENSP00000509770.1:n.1635-81_1635-80del
ENST00000693763.1:n.2747-81_2747-80del
ENST00000245407.8:c.1587-81_1587-80del MANE Select	ENSP00000245407.3:n.1587-81_1587-80del
ENST00000245407.7:c.1587-81_1587-80del	ENSP00000245407.3:n.1587-81_1587-80del
ENST00000435065.6:c.1659-81_1659-80del	ENSP00000402760.2:n.1659-81_1659-80del
ENST00000447841.5:c.431-81_431-80del
ENST00000461013.5:n.9009-81_9009-80del
ENST00000475308.1:n.2265-81_2265-80del
NM_001308122.1:c.1659-81_1659-80del	NP_001295051.1:n.1659-81_1659-80del
NM_003060.3:c.1587-81_1587-80del	NP_003051.1:n.1587-81_1587-80del
XM_011543590.1:c.969-81_969-80del	XP_011541892.1:n.969-81_969-80del
XR_948290.1:n.1713-81_1713-80del
XM_011543590.2:c.969-81_969-80del	XP_011541892.1:n.969-81_969-80del
XM_017009778.2:c.1059-81_1059-80del	XP_016865267.1:n.1059-81_1059-80del
XR_001742215.1:n.1842-81_1842-80del
XR_001742216.1:n.1861-81_1861-80del
XR_427718.2:n.1947-81_1947-80del
XR_948290.2:n.1713-81_1713-80del
XR_948291.2:n.1941-81_1941-80del
NM_003060.4:c.1587-81_1587-80del MANE Select	NP_003051.1:n.1587-81_1587-80del
NM_001308122.2:c.1659-81_1659-80del	NP_001295051.1:n.1659-81_1659-80del