Canonical Allele Identifier: CA2664451067

Gene: HRH1

Linked Data

• gnomAD v4: 3-11259847-ATCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.11259851_11259854del , CM000665.2:g.11259851_11259854del	GRCh38
NC_000003.11:g.11301537_11301540del , CM000665.1:g.11301537_11301540del	GRCh37
NC_000003.10:g.11276537_11276540del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000431010.3:c.814_817del MANE Select	ENSP00000397028.2:p.Val272Ter
ENST00000397056.1:c.814_817del	ENSP00000380247.1:p.Val272Ter
ENST00000431010.2:c.814_817del	ENSP00000397028.2:p.Val272Ter
ENST00000438284.2:c.814_817del	ENSP00000406705.2:p.Val272Ter
NM_000861.3:c.814_817del	NP_000852.1:p.Val272Ter
NM_001098211.1:c.814_817del	NP_001091681.1:p.Val272Ter
NM_001098212.1:c.814_817del	NP_001091682.1:p.Val272Ter
NM_001098213.1:c.814_817del	NP_001091683.1:p.Val272Ter
XM_011533652.1:c.814_817del	XP_011531954.1:p.Val272Ter
XM_011533653.1:c.814_817del	XP_011531955.1:p.Val272Ter
XM_011533654.1:c.814_817del	XP_011531956.1:p.Val272Ter
XM_011533655.1:c.814_817del	XP_011531957.1:p.Val272Ter
XM_011533653.2:c.814_817del	XP_011531955.1:p.Val272Ter
XM_017006283.1:c.814_817del	XP_016861772.1:p.Val272Ter
XM_017006284.1:c.814_817del	XP_016861773.1:p.Val272Ter
NM_001098211.2:c.814_817del	NP_001091681.1:p.Val272Ter
NM_001098212.2:c.814_817del MANE Select	NP_001091682.1:p.Val272Ter
NM_001098213.2:c.814_817del	NP_001091683.1:p.Val272Ter