Canonical Allele Identifier: CA636176922

Gene: SLC12A5

Linked Data

• dbSNP Id: rs1217694359
• gnomAD v2: 20-44684765-GC-G
• MyVariant Identifiers: chr20:g.44684766del (hg19) ; chr20:g.46056127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056127del , CM000682.2:g.46056127del	GRCh38
NC_000020.10:g.44684766del , CM000682.1:g.44684766del	GRCh37
NC_000020.9:g.44118173del	NCBI36
NG_046341.1:g.39438del

Transcript Alleles

HGVS	Amino-acid change
ENST00000243964.7:c.2788-23del MANE Select	ENSP00000243964.4:n.2788-23del
ENST00000243964.6:c.2788-23del	ENSP00000243964.3:n.2788-23del
ENST00000454036.6:c.2857-23del	ENSP00000387694.1:n.2857-23del
ENST00000616201.4:c.1298-2529del	ENSP00000484585.1:n.1298-2529del
ENST00000616202.4:c.613-2354del	ENSP00000478369.1:n.613-2354del
ENST00000616933.4:c.*2106-23del	ENSP00000477569.1:n.*2106-23del
ENST00000626937.2:c.510-3472del	ENSP00000485953.1:n.510-3472del
ENST00000628413.1:n.281del
NM_001134771.1:c.2857-23del	NP_001128243.1:n.2857-23del
NM_020708.4:c.2788-23del	NP_065759.1:n.2788-23del
XM_017027981.1:c.2857-23del	XP_016883470.1:n.2857-23del
NM_001134771.2:c.2857-23del	NP_001128243.1:n.2857-23del
NM_020708.5:c.2788-23del MANE Select	NP_065759.1:n.2788-23del