Canonical Allele Identifier: CA2621973571

Gene: PUS1

Linked Data

• gnomAD v4: 12-131941267-TCCTCCCTGACCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941269_131941281del , CM000674.2:g.131941269_131941281del	GRCh38
NC_000012.11:g.132425814_132425826del , CM000674.1:g.132425814_132425826del	GRCh37
NC_000012.10:g.130991767_130991779del	NCBI36
NG_013039.1:g.17070_17082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.545-23_545-11del MANE Select	ENSP00000365837.3:n.545-23_545-11del
ENST00000322060.9:c.461-23_461-11del	ENSP00000324726.5:n.461-23_461-11del
ENST00000376649.7:c.545-23_545-11del	ENSP00000365837.3:n.545-23_545-11del
ENST00000443358.6:c.461-23_461-11del	ENSP00000392451.2:n.461-23_461-11del
ENST00000535067.5:c.358-2270_358-2258del	ENSP00000443969.1:n.358-2270_358-2258del
ENST00000537484.1:c.470-23_470-11del	ENSP00000440179.1:n.470-23_470-11del
ENST00000542167.2:c.386-23_386-11del	ENSP00000438948.1:n.386-23_386-11del
ENST00000543754.1:n.343_355del
NM_001002019.2:c.461-23_461-11del	NP_001002019.1:n.461-23_461-11del
NM_001002020.2:c.461-23_461-11del	NP_001002020.1:n.461-23_461-11del
NM_025215.5:c.545-23_545-11del	NP_079491.2:n.545-23_545-11del
XM_011538768.1:c.146-23_146-11del	XP_011537070.1:n.146-23_146-11del
XM_011538768.3:c.146-23_146-11del	XP_011537070.1:n.146-23_146-11del
XR_001748872.1:n.1000-23_1000-11del
NM_001002019.3:c.461-23_461-11del	NP_001002019.1:n.461-23_461-11del
NM_001002020.3:c.461-23_461-11del	NP_001002020.1:n.461-23_461-11del
NM_025215.6:c.545-23_545-11del MANE Select	NP_079491.2:n.545-23_545-11del