Canonical Allele Identifier: CA1128276824

Gene: PRPF4

Linked Data

• dbSNP Id: rs1832508729
• gnomAD v3: 9-113288280-ATTG-A
• gnomAD v4: 9-113288280-ATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288283_113288285del , CM000671.2:g.113288283_113288285del	GRCh38
NC_000009.11:g.116050563_116050565del , CM000671.1:g.116050563_116050565del	GRCh37
NC_000009.10:g.115090384_115090386del	NCBI36
NG_034225.1:g.17650_17652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.1022+19_1022+21del MANE Select	ENSP00000363313.4:n.1022+19_1022+21del
ENST00000374199.9:c.1025+19_1025+21del	ENSP00000363315.4:n.1025+19_1025+21del
ENST00000374198.4:c.1025+19_1025+21del	ENSP00000363313.3:n.1025+19_1025+21del
ENST00000374199.8:c.1022+19_1022+21del	ENSP00000363315.3:n.1022+19_1022+21del
NM_001244926.1:c.1022+19_1022+21del	NP_001231855.1:n.1022+19_1022+21del
NM_004697.4:c.1025+19_1025+21del	NP_004688.2:n.1025+19_1025+21del
XM_005252300.2:c.296+19_296+21del	XP_005252357.1:n.296+19_296+21del
XM_011519181.1:c.1025+19_1025+21del	XP_011517483.1:n.1025+19_1025+21del
NM_001322266.1:c.296+19_296+21del	NP_001309195.1:n.296+19_296+21del
NM_001322267.1:c.296+19_296+21del	NP_001309196.1:n.296+19_296+21del
NR_136265.1:n.1135+19_1135+21del
NR_136266.1:n.1132+19_1132+21del
NM_001244926.2:c.1022+19_1022+21del MANE Select	NP_001231855.1:n.1022+19_1022+21del
NM_001322266.2:c.296+19_296+21del	NP_001309195.1:n.296+19_296+21del
NM_001322267.2:c.296+19_296+21del	NP_001309196.1:n.296+19_296+21del
NM_004697.5:c.1025+19_1025+21del	NP_004688.2:n.1025+19_1025+21del
NR_136265.2:n.1111+19_1111+21del
NR_136266.2:n.1108+19_1108+21del