Canonical Allele Identifier: CA6839810

Gene: HPD TIALD

Linked Data

• dbSNP Id: rs759250537
• ExAC: 12:122295322 CAGT / C
• gnomAD v2: 12-122295322-CAGT-C
• MyVariant Identifiers: chr12:g.122295323_122295325del (hg19) ; chr12:g.121857417_121857419del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857419_121857421del , CM000674.2:g.121857419_121857421del	GRCh38
NC_000012.11:g.122295325_122295327del , CM000674.1:g.122295325_122295327del	GRCh37
NC_000012.10:g.120779708_120779710del	NCBI36
NG_016461.1:g.36193_36195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.107_109del (HPD) MANE Select	ENSP00000289004.4:p.Tyr36del
ENST00000535114.1:n.463_465del (HPD)
ENST00000542159.2:n.165_167del (HPD)
ENST00000543163.5:c.-11_-9del (HPD)	ENSP00000441677.1:n.-11_-9del
NM_001171993.1:c.-11_-9del (HPD)	NP_001165464.1:n.-11_-9del
NM_002150.2:c.107_109del (HPD)	NP_002141.1:p.Tyr36del
XR_002957437.1:n.324-200_324-198del (TIALD)
NM_002150.3:c.107_109del (HPD) MANE Select	NP_002141.2:p.Tyr36del
NM_001171993.2:c.-11_-9del (HPD)	NP_001165464.1:n.-11_-9del