Canonical Allele Identifier: CA2577572495

Gene: SLC6A20

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45772524_45772525del , CM000665.2:g.45772524_45772525del	GRCh38
NC_000003.11:g.45814016_45814017del , CM000665.1:g.45814016_45814017del	GRCh37
NC_000003.10:g.45789020_45789021del	NCBI36
NG_023204.1:g.29019_29020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703343.1:c.673_674del	ENSP00000515266.1:p.Met225ValfsTer?
ENST00000358525.9:c.673_674del MANE Select	ENSP00000346298.4:p.Met225ValfsTer?
ENST00000353278.8:c.583-1067_583-1066del	ENSP00000296133.5:n.583-1067_583-1066del
ENST00000358525.8:c.673_674del	ENSP00000346298.4:p.Met225ValfsTer?
ENST00000413781.1:c.532_533del	ENSP00000395506.1:p.Met178ValfsTer?
ENST00000456124.6:c.673_674del	ENSP00000404310.2:p.Met225ValfsTer?
NM_020208.3:c.673_674del	NP_064593.1:p.Met225ValfsTer?
NM_022405.3:c.583-1067_583-1066del	NP_071800.1:n.583-1067_583-1066del
XM_005265236.2:c.673_674del	XP_005265293.1:p.Met225ValfsTer?
XM_011533847.1:c.376_377del	XP_011532149.1:p.Met126ValfsTer?
XM_011533848.1:c.673_674del	XP_011532150.1:p.Met225ValfsTer?
XM_011533847.2:c.376_377del	XP_011532149.1:p.Met126ValfsTer?
XM_011533848.2:c.673_674del	XP_011532150.1:p.Met225ValfsTer?
NM_020208.4:c.673_674del MANE Select	NP_064593.1:p.Met225ValfsTer?
NM_022405.4:c.583-1067_583-1066del	NP_071800.1:n.583-1067_583-1066del
NM_001385683.1:c.673_674del	NP_001372612.1:p.Met225ValfsTer?