Canonical Allele Identifier: CA1873319454

Gene: PRPF4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288280_113288283delinsATTG , CM000671.2:g.113288280_113288283delinsATTG	GRCh38
NC_000009.11:g.116050560_116050563delinsATTG , CM000671.1:g.116050560_116050563delinsATTG	GRCh37
NC_000009.10:g.115090381_115090384delinsATTG	NCBI36
NG_034225.1:g.17647_17650delinsATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.1022+16_1022+19delinsATTG MANE Select	ENSP00000363313.4:n.1022+16_1022+19delinsATTG
ENST00000374199.9:c.1025+16_1025+19delinsATTG	ENSP00000363315.4:n.1025+16_1025+19delinsATTG
ENST00000374198.4:c.1025+16_1025+19delinsATTG	ENSP00000363313.3:n.1025+16_1025+19delinsATTG
ENST00000374199.8:c.1022+16_1022+19delinsATTG	ENSP00000363315.3:n.1022+16_1022+19delinsATTG
NM_001244926.1:c.1022+16_1022+19delinsATTG	NP_001231855.1:n.1022+16_1022+19delinsATTG
NM_004697.4:c.1025+16_1025+19delinsATTG	NP_004688.2:n.1025+16_1025+19delinsATTG
XM_005252300.2:c.296+16_296+19delinsATTG	XP_005252357.1:n.296+16_296+19delinsATTG
XM_011519181.1:c.1025+16_1025+19delinsATTG	XP_011517483.1:n.1025+16_1025+19delinsATTG
NM_001322266.1:c.296+16_296+19delinsATTG	NP_001309195.1:n.296+16_296+19delinsATTG
NM_001322267.1:c.296+16_296+19delinsATTG	NP_001309196.1:n.296+16_296+19delinsATTG
NR_136265.1:n.1135+16_1135+19delinsATTG
NR_136266.1:n.1132+16_1132+19delinsATTG
NM_001244926.2:c.1022+16_1022+19delinsATTG MANE Select	NP_001231855.1:n.1022+16_1022+19delinsATTG
NM_001322266.2:c.296+16_296+19delinsATTG	NP_001309195.1:n.296+16_296+19delinsATTG
NM_001322267.2:c.296+16_296+19delinsATTG	NP_001309196.1:n.296+16_296+19delinsATTG
NM_004697.5:c.1025+16_1025+19delinsATTG	NP_004688.2:n.1025+16_1025+19delinsATTG
NR_136265.2:n.1111+16_1111+19delinsATTG
NR_136266.2:n.1108+16_1108+19delinsATTG