Canonical Allele Identifier: CA2663619357

Gene: PRSS56

Linked Data

• gnomAD v4: 2-232523463-T-TGGCTCTCCCCGCTCCAGCGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232523463_232523464insGGCTCTCCCCGCTCCAGCGCTC , CM000664.2:g.232523463_232523464insGGCTCTCCCCGCTCCAGCGCTC	GRCh38
NC_000002.11:g.233388173_233388174insGGCTCTCCCCGCTCCAGCGCTC , CM000664.1:g.233388173_233388174insGGCTCTCCCCGCTCCAGCGCTC	GRCh37
NC_000002.10:g.233096417_233096418insGGCTCTCCCCGCTCCAGCGCTC	NCBI36
NG_008028.1:g.2252_2253insGGCTCTCCCCGCTCCAGCGCTC
NG_031969.1:g.8001_8002insGGCTCTCCCCGCTCCAGCGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617714.2:c.897_898insGGCTCTCCCCGCTCCAGCGCTC MANE Select	ENSP00000479745.1:p.Arg300GlyfsTer?
ENST00000449534.6:c.897_898insGGCTCTCCCCGCTCCAGCGCTC	ENSP00000473410.1:p.Arg300GlyfsTer?
ENST00000617714.1:c.897_898insGGCTCTCCCCGCTCCAGCGCTC	ENSP00000479745.1:p.Arg300GlyfsTer?
NM_001195129.1:c.897_898insGGCTCTCCCCGCTCCAGCGCTC	NP_001182058.1:p.Arg300GlyfsTer?
NM_001195129.2:c.897_898insGGCTCTCCCCGCTCCAGCGCTC MANE Select	NP_001182058.1:p.Arg300GlyfsTer?
NM_001369848.1:c.897_898insGGCTCTCCCCGCTCCAGCGCTC	NP_001356777.1:p.Arg300GlyfsTer?