Canonical Allele Identifier: CA2675199375

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132393586-C-CCTTCCAGAGTCCTGGGCCTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393602_132393603insCCTGGACTTCCAGAGTCCTGGG , CM000667.2:g.132393602_132393603insCCTGGACTTCCAGAGTCCTGGG	GRCh38
NC_000005.9:g.131729294_131729295insCCTGGACTTCCAGAGTCCTGGG , CM000667.1:g.131729294_131729295insCCTGGACTTCCAGAGTCCTGGG	GRCh37
NC_000005.8:g.131757193_131757194insCCTGGACTTCCAGAGTCCTGGG	NCBI36
NG_008982.1:g.28894_28895insCCTGGACTTCCAGAGTCCTGGG
NG_008982.2:g.28899_28900insCCTGGACTTCCAGAGTCCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-583_1292-582insCCTGGACTTCCAGAGTCCTGGG	ENSP00000388838.2:n.1292-583_1292-582insCCTGGACTTCCAGAGTCCTGG...
ENST00000435065.7:c.1523-74_1523-73insCCTGGACTTCCAGAGTCCTGGG	ENSP00000402760.2:n.1523-74_1523-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000448810.6:c.*303-74_*303-73insCCTGGACTTCCAGAGTCCTGGG	ENSP00000401860.2:n.*303-74_*303-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000685543.1:n.1592-74_1592-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000686757.1:c.*615-74_*615-73insCCTGGACTTCCAGAGTCCTGGG	ENSP00000510721.1:n.*615-74_*615-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000686868.1:n.369_370insCCTGGACTTCCAGAGTCCTGGG
ENST00000687740.1:n.4136-74_4136-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000688151.1:n.2761-74_2761-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000689271.1:c.1298-74_1298-73insCCTGGACTTCCAGAGTCCTGGG	ENSP00000510797.1:n.1298-74_1298-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000690900.1:c.*615-74_*615-73insCCTGGACTTCCAGAGTCCTGGG	ENSP00000510703.1:n.*615-74_*615-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000692212.1:n.4591-74_4591-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000692355.1:c.704-74_704-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000692413.1:c.1433-74_1433-73insCCTGGACTTCCAGAGTCCTGGG	ENSP00000509374.1:n.1433-74_1433-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000692825.1:c.1519-74_1519-73insCCTGGACTTCCAGAGTCCTGGG	ENSP00000509447.1:n.1519-74_1519-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000693308.1:c.1499-74_1499-73insCCTGGACTTCCAGAGTCCTGGG	ENSP00000509770.1:n.1499-74_1499-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000693763.1:n.2611-74_2611-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000245407.8:c.1451-74_1451-73insCCTGGACTTCCAGAGTCCTGGG MANE Select	ENSP00000245407.3:n.1451-74_1451-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000245407.7:c.1451-74_1451-73insCCTGGACTTCCAGAGTCCTGGG	ENSP00000245407.3:n.1451-74_1451-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000435065.6:c.1523-74_1523-73insCCTGGACTTCCAGAGTCCTGGG	ENSP00000402760.2:n.1523-74_1523-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000447841.5:c.295-74_295-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000448810.5:c.713-74_713-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000461013.5:n.8873-74_8873-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000475308.1:n.2129-74_2129-73insCCTGGACTTCCAGAGTCCTGGG
ENST00000479605.5:n.554-74_554-73insCCTGGACTTCCAGAGTCCTGGG
NM_001308122.1:c.1523-74_1523-73insCCTGGACTTCCAGAGTCCTGGG	NP_001295051.1:n.1523-74_1523-73insCCTGGACTTCCAGAGTCCTGGG
NM_003060.3:c.1451-74_1451-73insCCTGGACTTCCAGAGTCCTGGG	NP_003051.1:n.1451-74_1451-73insCCTGGACTTCCAGAGTCCTGGG
XM_011543590.1:c.833-74_833-73insCCTGGACTTCCAGAGTCCTGGG	XP_011541892.1:n.833-74_833-73insCCTGGACTTCCAGAGTCCTGGG
XR_948290.1:n.1577-74_1577-73insCCTGGACTTCCAGAGTCCTGGG
XM_011543590.2:c.833-74_833-73insCCTGGACTTCCAGAGTCCTGGG	XP_011541892.1:n.833-74_833-73insCCTGGACTTCCAGAGTCCTGGG
XM_017009778.2:c.923-74_923-73insCCTGGACTTCCAGAGTCCTGGG	XP_016865267.1:n.923-74_923-73insCCTGGACTTCCAGAGTCCTGGG
XR_001742215.1:n.1706-74_1706-73insCCTGGACTTCCAGAGTCCTGGG
XR_001742216.1:n.1725-74_1725-73insCCTGGACTTCCAGAGTCCTGGG
XR_427718.2:n.1811-74_1811-73insCCTGGACTTCCAGAGTCCTGGG
XR_948290.2:n.1577-74_1577-73insCCTGGACTTCCAGAGTCCTGGG
XR_948291.2:n.1805-74_1805-73insCCTGGACTTCCAGAGTCCTGGG
NM_003060.4:c.1451-74_1451-73insCCTGGACTTCCAGAGTCCTGGG MANE Select	NP_003051.1:n.1451-74_1451-73insCCTGGACTTCCAGAGTCCTGGG
NM_001308122.2:c.1523-74_1523-73insCCTGGACTTCCAGAGTCCTGGG	NP_001295051.1:n.1523-74_1523-73insCCTGGACTTCCAGAGTCCTGGG