Canonical Allele Identifier: CA2623146306

Gene: THSD1

Linked Data

• gnomAD v4: 13-52397396-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52397397_52397398del , CM000675.2:g.52397397_52397398del	GRCh38
NC_000013.10:g.52971532_52971533del , CM000675.1:g.52971532_52971533del	GRCh37
NC_000013.9:g.51869533_51869534del	NCBI36
NG_047168.1:g.14097_14098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258613.5:c.855_856del MANE Select	ENSP00000258613.4:p.Arg285SerfsTer6
ENST00000648254.1:c.855_856del	ENSP00000497520.1:p.Arg285SerfsTer6
ENST00000258613.4:c.855_856del	ENSP00000258613.4:p.Arg285SerfsTer6
ENST00000349258.8:c.855_856del	ENSP00000340650.4:p.Arg285SerfsTer6
NM_018676.3:c.855_856del	NP_061146.1:p.Arg285SerfsTer6
NM_199263.2:c.855_856del	NP_954872.1:p.Arg285SerfsTer6
NM_018676.4:c.855_856del MANE Select	NP_061146.1:p.Arg285SerfsTer6
NM_199263.3:c.855_856del	NP_954872.1:p.Arg285SerfsTer6