Canonical Allele Identifier: CA2499217116

Gene: PRSS48 SH3D19

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.151279870_151279874del , CM000666.2:g.151279870_151279874del	GRCh38
NC_000004.11:g.152201022_152201026del , CM000666.1:g.152201022_152201026del	GRCh37
NC_000004.10:g.152420472_152420476del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455694.7:c.127_131del (PRSS48) MANE Select	ENSP00000401328.2:p.Val43ProfsTer4
ENST00000604030.7:c.112+45370_112+45374del (SH3D19) MANE Select	ENSP00000488951.1:n.112+45370_112+45374del
ENST00000441586.2:c.52+2646_52+2650del (PRSS48)	ENSP00000401420.2:n.52+2646_52+2650del
ENST00000455694.6:c.127_131del (PRSS48)	ENSP00000401328.2:p.Val43ProfsTer4
ENST00000604030.6:c.112+45370_112+45374del (SH3D19)	ENSP00000488951.1:n.112+45370_112+45374del
NM_183375.2:c.127_131del (PRSS48)	NP_899231.2:p.Val43ProfsTer4
XM_011531921.1:c.196_200del (PRSS48)	XP_011530223.1:p.Val66ProfsTer4
XM_011531922.1:c.52+2646_52+2650del (PRSS48)	XP_011530224.1:n.52+2646_52+2650del
XR_939338.1:n.81-20508_81-20504del
NM_001353611.1:c.127_131del (PRSS48)	NP_001340540.1:p.Val43ProfsTer4
NM_183375.4:c.127_131del (PRSS48)	NP_899231.4:p.Val43ProfsTer4
XM_011531647.2:c.112+45370_112+45374del (SH3D19)	XP_011529949.2:n.112+45370_112+45374del
XM_011531649.2:c.112+45370_112+45374del (SH3D19)	XP_011529951.2:n.112+45370_112+45374del
XM_011531921.3:c.196_200del (PRSS48)	XP_011530223.1:p.Val66ProfsTer4
XM_011531922.2:c.52+2646_52+2650del (PRSS48)	XP_011530224.1:n.52+2646_52+2650del
XM_017007779.2:c.-729+45370_-729+45374del (SH3D19)	XP_016863268.1:n.-729+45370_-729+45374del
XM_024453900.1:c.112+45370_112+45374del (SH3D19)	XP_024309668.1:n.112+45370_112+45374del
XM_024453901.1:c.-729+45370_-729+45374del (SH3D19)	XP_024309669.1:n.-729+45370_-729+45374del
XM_024453902.1:c.112+45370_112+45374del (SH3D19)	XP_024309670.1:n.112+45370_112+45374del
XM_024453903.1:c.-729+45370_-729+45374del (SH3D19)	XP_024309671.1:n.-729+45370_-729+45374del
XM_024453905.1:c.-697+45370_-697+45374del (SH3D19)	XP_024309673.1:n.-697+45370_-697+45374del
XM_024453907.1:c.112+45370_112+45374del (SH3D19)	XP_024309675.1:n.112+45370_112+45374del
NM_001378121.1:c.112+45370_112+45374del (SH3D19)	NP_001365050.1:n.112+45370_112+45374del
NM_001378122.1:c.112+45370_112+45374del (SH3D19) MANE Select	NP_001365051.1:n.112+45370_112+45374del
NM_001378128.1:c.-697+45370_-697+45374del (SH3D19)	NP_001365057.1:n.-697+45370_-697+45374del
NM_001378131.1:c.-688+45370_-688+45374del (SH3D19)	NP_001365060.1:n.-688+45370_-688+45374del
NM_183375.5:c.127_131del (PRSS48) MANE Select	NP_899231.4:p.Val43ProfsTer4