Canonical Allele Identifier: CA1748636794

Linked Data

dbSNP Id: rs1800239550

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142774149_142774151del , CM000669.2:g.142774149_142774151del GRCh38
NC_000007.13:g.142482008_142482010del , CM000669.1:g.142482008_142482010del GRCh37
NC_000007.12:g.142181952_142181954del NCBI36
NG_008322.2:g.8207_8209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539842.6:c.591+94_591+96del (PRSS2) MANE Select ENSP00000488338.1:n.591+94_591+96del
ENST00000539842.5:c.591+94_591+96del (PRSS2) ENSP00000488338.1:n.591+94_591+96del
ENST00000610416.2:c.371-12889_371-12887del (TRBC1) ENSP00000482915.1:n.371-12889_371-12887del
ENST00000618750.2:n.424+111_424+113del (PRSS2)
ENST00000632805.1:c.588+94_588+96del (PRSS2) ENSP00000488077.1:n.588+94_588+96del
ENST00000632998.1:c.591+94_591+96del (PRSS2) ENSP00000488789.1:n.591+94_591+96del
ENST00000633114.1:c.597+94_597+96del (PRSS2) ENSP00000487822.1:n.597+94_597+96del
ENST00000633969.1:c.633+94_633+96del (PRSS2) ENSP00000488437.1:n.633+94_633+96del
ENST00000634019.1:c.633+94_633+96del (PRSS2) ENSP00000488594.1:n.633+94_633+96del
NM_001303414.1:c.633+94_633+96del (PRSS2) NP_001290343.1:n.633+94_633+96del
NM_002770.3:c.591+94_591+96del (PRSS2) NP_002761.1:n.591+94_591+96del
NR_130149.1:n.557+94_557+96del (PRSS2)
NM_002770.4:c.591+94_591+96del (PRSS2) MANE Select NP_002761.1:n.591+94_591+96del
NR_130149.2:n.530+94_530+96del (PRSS2)
NM_001303414.2:c.633+94_633+96del (PRSS2) NP_001290343.1:n.633+94_633+96del