Canonical Allele Identifier: CA2768433349

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393784_132393785insACCCAACA , CM000667.2:g.132393784_132393785insACCCAACA	GRCh38
NC_000005.9:g.131729476_131729477insACCCAACA , CM000667.1:g.131729476_131729477insACCCAACA	GRCh37
NC_000005.8:g.131757375_131757376insACCCAACA	NCBI36
NG_008982.1:g.29076_29077insACCCAACA
NG_008982.2:g.29081_29082insACCCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-401_1292-400insACCCAACA	ENSP00000388838.2:n.1292-401_1292-400insACCCAACA
ENST00000435065.7:c.1631_1632insACCCAACA	ENSP00000402760.2:p.Ile545ProfsTer8
ENST00000448810.6:c.*411_*412insACCCAACA	ENSP00000401860.2:n.*411_*412insACCCAACA
ENST00000685543.1:n.1700_1701insACCCAACA
ENST00000686757.1:c.*723_*724insACCCAACA	ENSP00000510721.1:n.*723_*724insACCCAACA
ENST00000686868.1:n.551_552insACCCAACA
ENST00000687740.1:n.4244_4245insACCCAACA
ENST00000688151.1:n.2869_2870insACCCAACA
ENST00000689271.1:c.1406_1407insACCCAACA	ENSP00000510797.1:p.Ile470ProfsTer8
ENST00000690900.1:c.*723_*724insACCCAACA	ENSP00000510703.1:n.*723_*724insACCCAACA
ENST00000692212.1:n.4699_4700insACCCAACA
ENST00000692355.1:c.812_813insACCCAACA
ENST00000692413.1:c.1541_1542insACCCAACA	ENSP00000509374.1:p.Ile515ProfsTer8
ENST00000692825.1:c.1627_1628insACCCAACA	ENSP00000509447.1:n.1627_1628insACCCAACA
ENST00000693308.1:c.1607_1608insACCCAACA	ENSP00000509770.1:p.Ile537ProfsTer8
ENST00000693763.1:n.2719_2720insACCCAACA
ENST00000245407.8:c.1559_1560insACCCAACA MANE Select	ENSP00000245407.3:p.Ile521ProfsTer8
ENST00000245407.7:c.1559_1560insACCCAACA	ENSP00000245407.3:p.Ile521ProfsTer8
ENST00000435065.6:c.1631_1632insACCCAACA	ENSP00000402760.2:p.Ile545ProfsTer8
ENST00000447841.5:c.403_404insACCCAACA
ENST00000448810.5:c.821_822insACCCAACA
ENST00000461013.5:n.8981_8982insACCCAACA
ENST00000475308.1:n.2237_2238insACCCAACA
NM_001308122.1:c.1631_1632insACCCAACA	NP_001295051.1:p.Ile545ProfsTer8
NM_003060.3:c.1559_1560insACCCAACA	NP_003051.1:p.Ile521ProfsTer8
XM_011543590.1:c.941_942insACCCAACA	XP_011541892.1:p.Ile315ProfsTer8
XR_948290.1:n.1685_1686insACCCAACA
XM_011543590.2:c.941_942insACCCAACA	XP_011541892.1:p.Ile315ProfsTer8
XM_017009778.2:c.1031_1032insACCCAACA	XP_016865267.1:p.Ile345ProfsTer8
XR_001742215.1:n.1814_1815insACCCAACA
XR_001742216.1:n.1833_1834insACCCAACA
XR_427718.2:n.1919_1920insACCCAACA
XR_948290.2:n.1685_1686insACCCAACA
XR_948291.2:n.1913_1914insACCCAACA
NM_003060.4:c.1559_1560insACCCAACA MANE Select	NP_003051.1:p.Ile521ProfsTer8
NM_001308122.2:c.1631_1632insACCCAACA	NP_001295051.1:p.Ile545ProfsTer8