Canonical Allele Identifier: CA744868148

Gene: SLC12A5

Linked Data

• dbSNP Id: rs1219227814
• gnomAD v4: 20-46056016-CAT-C
• MyVariant Identifiers: chr20:g.44684656_44684657del (hg19) ; chr20:g.46056017_46056018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056018_46056019del , CM000682.2:g.46056018_46056019del	GRCh38
NC_000020.10:g.44684657_44684658del , CM000682.1:g.44684657_44684658del	GRCh37
NC_000020.9:g.44118064_44118065del	NCBI36
NG_046341.1:g.39329_39330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-132_2788-131del MANE Select	ENSP00000243964.4:n.2788-132_2788-131del
ENST00000243964.6:c.2788-132_2788-131del	ENSP00000243964.3:n.2788-132_2788-131del
ENST00000454036.6:c.2857-132_2857-131del	ENSP00000387694.1:n.2857-132_2857-131del
ENST00000616201.4:c.1298-2638_1298-2637del	ENSP00000484585.1:n.1298-2638_1298-2637del
ENST00000616202.4:c.613-2463_613-2462del	ENSP00000478369.1:n.613-2463_613-2462del
ENST00000616933.4:c.*2106-132_*2106-131del	ENSP00000477569.1:n.*2106-132_*2106-131del
ENST00000626937.2:c.510-3581_510-3580del	ENSP00000485953.1:n.510-3581_510-3580del
ENST00000628413.1:n.172_173del
NM_001134771.1:c.2857-132_2857-131del	NP_001128243.1:n.2857-132_2857-131del
NM_020708.4:c.2788-132_2788-131del	NP_065759.1:n.2788-132_2788-131del
XM_017027981.1:c.2857-132_2857-131del	XP_016883470.1:n.2857-132_2857-131del
NM_001134771.2:c.2857-132_2857-131del	NP_001128243.1:n.2857-132_2857-131del
NM_020708.5:c.2788-132_2788-131del MANE Select	NP_065759.1:n.2788-132_2788-131del