Canonical Allele Identifier: CA2663619882
Gene: PRSS56 HGNC NCBI

Linked Data

gnomAD v4: 2-232523814-GGGACCCCCCCCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523818_232523829del , CM000664.2:g.232523818_232523829del GRCh38
NC_000002.11:g.233388528_233388539del , CM000664.1:g.233388528_233388539del GRCh37
NC_000002.10:g.233096772_233096783del NCBI36
NG_008028.1:g.2607_2618del
NG_031969.1:g.8356_8367del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1059_1070del MANE Select ENSP00000479745.1:p.Asp353_Gln356del
ENST00000449534.6:c.1062_1073del ENSP00000473410.1:p.Asp354_Gln357del
ENST00000617714.1:c.1059_1070del ENSP00000479745.1:p.Asp353_Gln356del
NM_001195129.1:c.1059_1070del NP_001182058.1:p.Asp353_Gln356del
NM_001195129.2:c.1059_1070del MANE Select NP_001182058.1:p.Asp353_Gln356del
NM_001369848.1:c.1062_1073del NP_001356777.1:p.Asp354_Gln357del
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