Canonical Allele Identifier: CA466759025

Gene: PRPF4

Linked Data

• COSMIC: COSM455181
• MyVariant Identifiers: chr9:g.116050502del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288224del , CM000671.2:g.113288224del	GRCh38
NC_000009.11:g.116050504del , CM000671.1:g.116050504del	GRCh37
NC_000009.10:g.115090325del	NCBI36
NG_034225.1:g.17591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.982del MANE Select	ENSP00000363313.4:p.Val328Ter
ENST00000374199.9:c.985del	ENSP00000363315.4:p.Val329Ter
ENST00000374198.4:c.985del	ENSP00000363313.3:p.Val329Ter
ENST00000374199.8:c.982del	ENSP00000363315.3:p.Val328Ter
NM_001244926.1:c.982del	NP_001231855.1:p.Val328Ter
NM_004697.4:c.985del	NP_004688.2:p.Val329Ter
XM_005252300.2:c.256del	XP_005252357.1:p.Val86Ter
XM_011519181.1:c.985del	XP_011517483.1:p.Val329Ter
NM_001322266.1:c.256del	NP_001309195.1:p.Val86Ter
NM_001322267.1:c.256del	NP_001309196.1:p.Val86Ter
NR_136265.1:n.1095del
NR_136266.1:n.1092del
NM_001244926.2:c.982del MANE Select	NP_001231855.1:p.Val328Ter
NM_001322266.2:c.256del	NP_001309195.1:p.Val86Ter
NM_001322267.2:c.256del	NP_001309196.1:p.Val86Ter
NM_004697.5:c.985del	NP_004688.2:p.Val329Ter
NR_136265.2:n.1071del
NR_136266.2:n.1068del