Canonical Allele Identifier: CA636035898

Gene: SLC12A5

Linked Data

• dbSNP Id: rs1221403463
• gnomAD v2: 20-44685139-GAGA-G
• gnomAD v4: 20-46056500-GAGA-G
• MyVariant Identifiers: chr20:g.44685140_44685142del (hg19) ; chr20:g.46056501_46056503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056505_46056507del , CM000682.2:g.46056505_46056507del	GRCh38
NC_000020.10:g.44685144_44685146del , CM000682.1:g.44685144_44685146del	GRCh37
NC_000020.9:g.44118551_44118553del	NCBI36
NG_046341.1:g.39816_39818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3051_3053del MANE Select	ENSP00000243964.4:p.Lys1017del
ENST00000243964.6:c.3051_3053del	ENSP00000243964.3:p.Lys1017del
ENST00000454036.6:c.3120_3122del	ENSP00000387694.1:p.Lys1040del
ENST00000616201.4:c.1298-2151_1298-2149del	ENSP00000484585.1:n.1298-2151_1298-2149del
ENST00000616202.4:c.613-1976_613-1974del	ENSP00000478369.1:n.613-1976_613-1974del
ENST00000616933.4:c.*2369_*2371del	ENSP00000477569.1:n.*2369_*2371del
ENST00000626937.2:c.510-3094_510-3092del	ENSP00000485953.1:n.510-3094_510-3092del
ENST00000628413.1:n.567_569del
NM_001134771.1:c.3120_3122del	NP_001128243.1:p.Lys1040del
NM_020708.4:c.3051_3053del	NP_065759.1:p.Lys1017del
XM_017027981.1:c.3120_3122del	XP_016883470.1:p.Lys1040del
NM_001134771.2:c.3120_3122del	NP_001128243.1:p.Lys1040del
NM_020708.5:c.3051_3053del MANE Select	NP_065759.1:p.Lys1017del