Canonical Allele Identifier: CA532430266

Gene: THADA

Linked Data

• dbSNP Id: rs1338839229
• gnomAD v2: 2-43639115-CAA-C
• MyVariant Identifiers: chr2:g.43639116_43639117del (hg19) ; chr2:g.43411977_43411978del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43411978_43411979del , CM000664.2:g.43411978_43411979del	GRCh38
NC_000002.11:g.43639117_43639118del , CM000664.1:g.43639117_43639118del	GRCh37
NC_000002.10:g.43492621_43492622del	NCBI36
NG_051580.1:g.189069_189070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405975.7:c.4059-13839_4059-13838del MANE Select	ENSP00000386088.2:n.4059-13839_4059-13838del
ENST00000398653.5:c.*2975-13839_*2975-13838del	ENSP00000381647.1:n.*2975-13839_*2975-13838del
ENST00000402796.5:c.2465-13839_2465-13838del	ENSP00000385003.1:n.2465-13839_2465-13838del
ENST00000405006.8:c.4059-13839_4059-13838del	ENSP00000385995.4:n.4059-13839_4059-13838del
ENST00000405975.6:c.4059-13839_4059-13838del	ENSP00000386088.2:n.4059-13839_4059-13838del
ENST00000407351.5:c.1778-13839_1778-13838del
ENST00000408045.7:c.*3154-13839_*3154-13838del	ENSP00000384172.2:n.*3154-13839_*3154-13838del
ENST00000485353.5:n.449-13839_449-13838del
NM_001083953.1:c.4059-13839_4059-13838del	NP_001077422.1:n.4059-13839_4059-13838del
NM_022065.4:c.4059-13839_4059-13838del	NP_071348.3:n.4059-13839_4059-13838del
NR_073394.1:n.4009-13839_4009-13838del
XM_006712061.2:c.4059-13839_4059-13838del	XP_006712124.1:n.4059-13839_4059-13838del
XM_006712062.1:c.4056-13839_4056-13838del	XP_006712125.1:n.4056-13839_4056-13838del
XM_006712063.1:c.3939-13839_3939-13838del	XP_006712126.1:n.3939-13839_3939-13838del
XM_006712064.1:c.4059-13839_4059-13838del	XP_006712127.1:n.4059-13839_4059-13838del
XM_006712065.1:c.3837-13839_3837-13838del	XP_006712128.1:n.3837-13839_3837-13838del
XM_006712066.1:c.3696-13839_3696-13838del	XP_006712129.1:n.3696-13839_3696-13838del
XM_006712067.1:c.3693-13839_3693-13838del	XP_006712130.1:n.3693-13839_3693-13838del
XM_006712068.2:c.4059-13839_4059-13838del	XP_006712131.1:n.4059-13839_4059-13838del
XM_006712069.2:c.1608-13839_1608-13838del	XP_006712132.1:n.1608-13839_1608-13838del
XM_011533016.1:c.1371-13839_1371-13838del	XP_011531318.1:n.1371-13839_1371-13838del
NM_001345923.1:c.4056-13839_4056-13838del	NP_001332852.1:n.4056-13839_4056-13838del
NM_001345924.1:c.3936-13839_3936-13838del	NP_001332853.1:n.3936-13839_3936-13838del
NM_001345925.1:c.4059-13839_4059-13838del	NP_001332854.1:n.4059-13839_4059-13838del
NR_144316.1:n.4199-13839_4199-13838del
XM_006712064.2:c.4059-13839_4059-13838del	XP_006712127.1:n.4059-13839_4059-13838del
XM_006712068.3:c.4059-13839_4059-13838del	XP_006712131.1:n.4059-13839_4059-13838del
XM_006712069.3:c.1608-13839_1608-13838del	XP_006712132.1:n.1608-13839_1608-13838del
XM_017004675.1:c.1371-13839_1371-13838del	XP_016860164.1:n.1371-13839_1371-13838del
NM_001083953.2:c.4059-13839_4059-13838del	NP_001077422.1:n.4059-13839_4059-13838del
NM_001345923.2:c.4056-13839_4056-13838del	NP_001332852.1:n.4056-13839_4056-13838del
NM_001345924.2:c.3936-13839_3936-13838del	NP_001332853.1:n.3936-13839_3936-13838del
NM_001345925.2:c.4059-13839_4059-13838del	NP_001332854.1:n.4059-13839_4059-13838del
NM_022065.5:c.4059-13839_4059-13838del MANE Select	NP_071348.3:n.4059-13839_4059-13838del
NR_073394.2:n.4001-13839_4001-13838del
NR_144316.2:n.4191-13839_4191-13838del