Canonical Allele Identifier: CA2587779629

Gene: PRSS57

Linked Data

• gnomAD v4: 19-695297-CCCCCGTACG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.695298_695306del , CM000681.2:g.695298_695306del	GRCh38
NC_000019.9:g.695298_695306del , CM000681.1:g.695298_695306del	GRCh37
NC_000019.8:g.646298_646306del	NCBI36
NG_051189.1:g.5226_5234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329267.9:c.79+46_79+54del MANE Select	ENSP00000327386.6:n.79+46_79+54del
ENST00000329267.8:c.79+46_79+54del	ENSP00000327386.6:n.79+46_79+54del
ENST00000613411.4:c.79+46_79+54del	ENSP00000482358.1:n.79+46_79+54del
NM_001308209.1:c.79+46_79+54del	NP_001295138.1:n.79+46_79+54del
NM_214710.3:c.79+46_79+54del	NP_999875.1:n.79+46_79+54del
NM_214710.4:c.79+46_79+54del	NP_999875.1:n.79+46_79+54del
NM_001308209.2:c.79+46_79+54del MANE Select	NP_001295138.2:n.79+46_79+54del
NM_214710.5:c.79+46_79+54del	NP_999875.2:n.79+46_79+54del