Canonical Allele Identifier: CA315644497

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 1161384
• ClinVar RCV Id: RCV001505874
• dbSNP Id: rs773293457
• gnomAD v2: 20-44684919-GC-G
• gnomAD v3: 20-46056280-GC-G
• gnomAD v4: 20-46056280-GC-G
• MyVariant Identifiers: chr20:g.44684920del (hg19) ; chr20:g.46056281del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056281del , CM000682.2:g.46056281del	GRCh38
NC_000020.10:g.44684920del , CM000682.1:g.44684920del	GRCh37
NC_000020.9:g.44118327del	NCBI36
NG_046341.1:g.39592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2910+9del MANE Select	ENSP00000243964.4:n.2910+9del
ENST00000243964.6:c.2910+9del	ENSP00000243964.3:n.2910+9del
ENST00000454036.6:c.2979+9del	ENSP00000387694.1:n.2979+9del
ENST00000616201.4:c.1298-2375del	ENSP00000484585.1:n.1298-2375del
ENST00000616202.4:c.613-2200del	ENSP00000478369.1:n.613-2200del
ENST00000616933.4:c.*2228+9del	ENSP00000477569.1:n.*2228+9del
ENST00000626937.2:c.510-3318del	ENSP00000485953.1:n.510-3318del
ENST00000628413.1:n.426+9del
NM_001134771.1:c.2979+9del	NP_001128243.1:n.2979+9del
NM_020708.4:c.2910+9del	NP_065759.1:n.2910+9del
XM_017027981.1:c.2979+9del	XP_016883470.1:n.2979+9del
NM_001134771.2:c.2979+9del	NP_001128243.1:n.2979+9del
NM_020708.5:c.2910+9del MANE Select	NP_065759.1:n.2910+9del