Canonical Allele Identifier: CA2587779532

Gene: PRSS57

Linked Data

• gnomAD v4: 19-695224-ACGGGGGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.695228_695235del , CM000681.2:g.695228_695235del	GRCh38
NC_000019.9:g.695228_695235del , CM000681.1:g.695228_695235del	GRCh37
NC_000019.8:g.646228_646235del	NCBI36
NG_051189.1:g.5300_5307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329267.9:c.79+120_79+127del MANE Select	ENSP00000327386.6:n.79+120_79+127del
ENST00000329267.8:c.79+120_79+127del	ENSP00000327386.6:n.79+120_79+127del
ENST00000613411.4:c.79+120_79+127del	ENSP00000482358.1:n.79+120_79+127del
NM_001308209.1:c.79+120_79+127del	NP_001295138.1:n.79+120_79+127del
NM_214710.3:c.79+120_79+127del	NP_999875.1:n.79+120_79+127del
NM_214710.4:c.79+120_79+127del	NP_999875.1:n.79+120_79+127del
NM_001308209.2:c.79+120_79+127del MANE Select	NP_001295138.2:n.79+120_79+127del
NM_214710.5:c.79+120_79+127del	NP_999875.2:n.79+120_79+127del