Canonical Allele Identifier: CA636176954

Gene: SLC12A5

Linked Data

• dbSNP Id: rs1171711277
• gnomAD v2: 20-44685083-G-GGGAGACAGATCCGGAGAAGGTGCATCTCACCTGGACCAAGGACAAGTC
• MyVariant Identifiers: chr20:g.44685083_44685084insGGAGACAGATCCGGAGAAGGTGCATCTCACCTGGACCAAGGACAAGTC (hg19) ; chr20:g.46056444_46056445insGGAGACAGATCCGGAGAAGGTGCATCTCACCTGGACCAAGGACAAGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056447_46056494dup , CM000682.2:g.46056447_46056494dup	GRCh38
NC_000020.10:g.44685086_44685133dup , CM000682.1:g.44685086_44685133dup	GRCh37
NC_000020.9:g.44118493_44118540dup	NCBI36
NG_046341.1:g.39758_39805dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2993_3040dup MANE Select	ENSP00000243964.4:p.Ser1013_Val1014insGluThrAspProGluLysValHi...
ENST00000243964.6:c.2993_3040dup	ENSP00000243964.3:p.Ser1013_Val1014insGluThrAspProGluLysValHi...
ENST00000454036.6:c.3062_3109dup	ENSP00000387694.1:p.Ser1036_Val1037insGluThrAspProGluLysValHi...
ENST00000616201.4:c.1298-2209_1298-2162dup	ENSP00000484585.1:n.1298-2209_1298-2162dup
ENST00000616202.4:c.613-2034_613-1987dup	ENSP00000478369.1:n.613-2034_613-1987dup
ENST00000616933.4:c.*2311_*2358dup	ENSP00000477569.1:n.*2311_*2358dup
ENST00000626937.2:c.510-3152_510-3105dup	ENSP00000485953.1:n.510-3152_510-3105dup
ENST00000628413.1:n.509_556dup
NM_001134771.1:c.3062_3109dup	NP_001128243.1:p.Ser1036_Val1037insGluThrAspProGluLysValHisLe...
NM_020708.4:c.2993_3040dup	NP_065759.1:p.Ser1013_Val1014insGluThrAspProGluLysValHisLeuTh...
XM_017027981.1:c.3062_3109dup	XP_016883470.1:p.Ser1036_Val1037insGluThrAspProGluLysValHisLe...
NM_001134771.2:c.3062_3109dup	NP_001128243.1:p.Ser1036_Val1037insGluThrAspProGluLysValHisLe...
NM_020708.5:c.2993_3040dup MANE Select	NP_065759.1:p.Ser1013_Val1014insGluThrAspProGluLysValHisLeuTh...