Canonical Allele Identifier: CA2675203995

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390809-G-GGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390818_132390820dup , CM000667.2:g.132390818_132390820dup	GRCh38
NC_000005.9:g.131726510_131726512dup , CM000667.1:g.131726510_131726512dup	GRCh37
NC_000005.8:g.131754409_131754411dup	NCBI36
NG_008982.1:g.26110_26112dup
NG_008982.2:g.26115_26117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1022_1024dup	ENSP00000388838.2:p.Leu341_Gln342insLeu
ENST00000435065.7:c.1253_1255dup	ENSP00000402760.2:p.Leu418_Gln419insLeu
ENST00000448810.6:c.*33_*35dup	ENSP00000401860.2:n.*33_*35dup
ENST00000685543.1:n.1322_1324dup
ENST00000686757.1:c.*345_*347dup	ENSP00000510721.1:n.*345_*347dup
ENST00000687740.1:n.3866_3868dup
ENST00000688151.1:n.2491_2493dup
ENST00000689271.1:c.1028_1030dup	ENSP00000510797.1:p.Leu343_Gln344insLeu
ENST00000690900.1:c.*345_*347dup	ENSP00000510703.1:n.*345_*347dup
ENST00000692212.1:n.2793_2795dup
ENST00000692355.1:c.434_436dup
ENST00000692413.1:c.1163_1165dup	ENSP00000509374.1:p.Leu388_Gln389insLeu
ENST00000692825.1:c.1249_1251dup	ENSP00000509447.1:n.1249_1251dup
ENST00000693308.1:c.1229_1231dup	ENSP00000509770.1:p.Leu410_Gln411insLeu
ENST00000693763.1:n.2341_2343dup
ENST00000245407.8:c.1181_1183dup MANE Select	ENSP00000245407.3:p.Leu394_Gln395insLeu
ENST00000245407.7:c.1181_1183dup	ENSP00000245407.3:p.Leu394_Gln395insLeu
ENST00000435065.6:c.1253_1255dup	ENSP00000402760.2:p.Leu418_Gln419insLeu
ENST00000447841.5:c.112-1615_112-1613dup
ENST00000448810.5:c.443_445dup
ENST00000461013.5:n.8603_8605dup
ENST00000475308.1:n.1859_1861dup
ENST00000479605.5:n.284_286dup
NM_001308122.1:c.1253_1255dup	NP_001295051.1:p.Leu418_Gln419insLeu
NM_003060.3:c.1181_1183dup	NP_003051.1:p.Leu394_Gln395insLeu
XM_011543590.1:c.563_565dup	XP_011541892.1:p.Leu188_Gln189insLeu
XR_427718.1:n.1541_1543dup
XR_948290.1:n.1394-1615_1394-1613dup
XR_948291.1:n.1535_1537dup
XM_011543590.2:c.563_565dup	XP_011541892.1:p.Leu188_Gln189insLeu
XM_017009778.2:c.653_655dup	XP_016865267.1:p.Leu218_Gln219insLeu
XR_001742215.1:n.1436_1438dup
XR_001742216.1:n.1455_1457dup
XR_427718.2:n.1541_1543dup
XR_948290.2:n.1394-1615_1394-1613dup
XR_948291.2:n.1535_1537dup
NM_003060.4:c.1181_1183dup MANE Select	NP_003051.1:p.Leu394_Gln395insLeu
NM_001308122.2:c.1253_1255dup	NP_001295051.1:p.Leu418_Gln419insLeu