Canonical Allele Identifier: CA631000305

Gene: PRSS57

Linked Data

• gnomAD v2: 19-694573-A-AAAAAAAAAAAAAG
• gnomAD v3: 19-694573-A-AAAAAAAAAAAAAG
• gnomAD v4: 19-694573-A-AAAAAAAAAAAAAG
• MyVariant Identifiers: chr19:g.694573_694574insAAAAAAAAAAAAG (hg19) ; chr19:g.694573_694574insAAAAAAAAAAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.694573_694574insAAAAAAAAAAAAG , CM000681.2:g.694573_694574insAAAAAAAAAAAAG	GRCh38
NC_000019.9:g.694573_694574insAAAAAAAAAAAAG , CM000681.1:g.694573_694574insAAAAAAAAAAAAG	GRCh37
NC_000019.8:g.645573_645574insAAAAAAAAAAAAG	NCBI36
NG_051189.1:g.5958_5959insCTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329267.9:c.233+240_233+241insCTTTTTTTTTTTT MANE Select	ENSP00000327386.6:n.233+240_233+241insCTTTTTTTTTTTT
ENST00000329267.8:c.233+240_233+241insCTTTTTTTTTTTT	ENSP00000327386.6:n.233+240_233+241insCTTTTTTTTTTTT
ENST00000613411.4:c.236+240_236+241insCTTTTTTTTTTTT	ENSP00000482358.1:n.236+240_236+241insCTTTTTTTTTTTT
NM_001308209.1:c.233+240_233+241insCTTTTTTTTTTTT	NP_001295138.1:n.233+240_233+241insCTTTTTTTTTTTT
NM_214710.3:c.236+240_236+241insCTTTTTTTTTTTT	NP_999875.1:n.236+240_236+241insCTTTTTTTTTTTT
NM_214710.4:c.236+240_236+241insCTTTTTTTTTTTT	NP_999875.1:n.236+240_236+241insCTTTTTTTTTTTT
NM_001308209.2:c.233+240_233+241insCTTTTTTTTTTTT MANE Select	NP_001295138.2:n.233+240_233+241insCTTTTTTTTTTTT
NM_214710.5:c.236+240_236+241insCTTTTTTTTTTTT	NP_999875.2:n.236+240_236+241insCTTTTTTTTTTTT