Canonical Allele Identifier: CA2675196674

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132370507-CCCTCCAGCCAGGTGGCTTGGGAACGCTTCACGAGGTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370518_132370555del , CM000667.2:g.132370518_132370555del	GRCh38
NC_000005.9:g.131706210_131706247del , CM000667.1:g.131706210_131706247del	GRCh37
NC_000005.8:g.131734109_131734146del	NCBI36
NG_008982.1:g.5810_5847del
NG_008982.2:g.5815_5852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.393+153_393+190del	ENSP00000388838.2:n.393+153_393+190del
ENST00000435065.7:c.393+153_393+190del	ENSP00000402760.2:n.393+153_393+190del
ENST00000448810.6:c.393+153_393+190del	ENSP00000401860.2:n.393+153_393+190del
ENST00000686757.1:c.393+153_393+190del	ENSP00000510721.1:n.393+153_393+190del
ENST00000687740.1:n.527+153_527+190del
ENST00000689271.1:c.393+153_393+190del	ENSP00000510797.1:n.393+153_393+190del
ENST00000690900.1:c.393+153_393+190del	ENSP00000510703.1:n.393+153_393+190del
ENST00000692413.1:c.393+153_393+190del	ENSP00000509374.1:n.393+153_393+190del
ENST00000692825.1:c.393+153_393+190del	ENSP00000509447.1:n.393+153_393+190del
ENST00000693308.1:c.393+153_393+190del	ENSP00000509770.1:n.393+153_393+190del
ENST00000693763.1:n.527+153_527+190del
ENST00000245407.8:c.393+153_393+190del MANE Select	ENSP00000245407.3:n.393+153_393+190del
ENST00000245407.7:c.393+153_393+190del	ENSP00000245407.3:n.393+153_393+190del
ENST00000415928.5:c.90+153_90+190del	ENSP00000388838.1:n.90+153_90+190del
ENST00000435065.6:c.393+153_393+190del	ENSP00000402760.2:n.393+153_393+190del
ENST00000437841.6:c.393+153_393+190del	ENSP00000400553.1:n.393+153_393+190del
NM_001308122.1:c.393+153_393+190del	NP_001295051.1:n.393+153_393+190del
NM_003060.3:c.393+153_393+190del	NP_003051.1:n.393+153_393+190del
XR_427718.1:n.662+153_662+190del
XR_948290.1:n.662+153_662+190del
XR_948291.1:n.662+153_662+190del
XM_011543590.2:c.-239+153_-239+190del	XP_011541892.1:n.-239+153_-239+190del
XM_017009778.2:c.-32+153_-32+190del	XP_016865267.1:n.-32+153_-32+190del
XR_001742215.1:n.662+153_662+190del
XR_001742216.1:n.662+153_662+190del
XR_427718.2:n.662+153_662+190del
XR_948290.2:n.662+153_662+190del
XR_948291.2:n.662+153_662+190del
NM_003060.4:c.393+153_393+190del MANE Select	NP_003051.1:n.393+153_393+190del
NM_001308122.2:c.393+153_393+190del	NP_001295051.1:n.393+153_393+190del