Canonical Allele Identifier: CA2351568

Gene: SLC6A20

Linked Data

• dbSNP Id: rs752671559
• ExAC: 3:45814117 TCAGAGGG / T
• gnomAD v2: 3-45814117-TCAGAGGG-T
• gnomAD v4: 3-45772625-TCAGAGGG-T
• MyVariant Identifiers: chr3:g.45814118_45814124del (hg19) ; chr3:g.45772626_45772632del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45772631_45772637del , CM000665.2:g.45772631_45772637del	GRCh38
NC_000003.11:g.45814123_45814129del , CM000665.1:g.45814123_45814129del	GRCh37
NC_000003.10:g.45789127_45789133del	NCBI36
NG_023204.1:g.28912_28918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703343.1:c.583-17_583-11del	ENSP00000515266.1:n.583-17_583-11del
ENST00000358525.9:c.583-17_583-11del MANE Select	ENSP00000346298.4:n.583-17_583-11del
ENST00000353278.8:c.583-1174_583-1168del	ENSP00000296133.5:n.583-1174_583-1168del
ENST00000358525.8:c.583-17_583-11del	ENSP00000346298.4:n.583-17_583-11del
ENST00000413781.1:c.442-17_442-11del	ENSP00000395506.1:n.442-17_442-11del
ENST00000456124.6:c.583-17_583-11del	ENSP00000404310.2:n.583-17_583-11del
NM_020208.3:c.583-17_583-11del	NP_064593.1:n.583-17_583-11del
NM_022405.3:c.583-1174_583-1168del	NP_071800.1:n.583-1174_583-1168del
XM_005265236.2:c.583-17_583-11del	XP_005265293.1:n.583-17_583-11del
XM_011533847.1:c.286-17_286-11del	XP_011532149.1:n.286-17_286-11del
XM_011533848.1:c.583-17_583-11del	XP_011532150.1:n.583-17_583-11del
XM_011533847.2:c.286-17_286-11del	XP_011532149.1:n.286-17_286-11del
XM_011533848.2:c.583-17_583-11del	XP_011532150.1:n.583-17_583-11del
NM_020208.4:c.583-17_583-11del MANE Select	NP_064593.1:n.583-17_583-11del
NM_022405.4:c.583-1174_583-1168del	NP_071800.1:n.583-1174_583-1168del
NM_001385683.1:c.583-17_583-11del	NP_001372612.1:n.583-17_583-11del