Canonical Allele Identifier: CA229328328

Gene: ZPR1

Linked Data

• dbSNP Id: rs757892209
• gnomAD v2: 11-116652158-ACTT-A
• gnomAD v3: 11-116781442-ACTT-A
• gnomAD v4: 11-116781442-ACTT-A
• MyVariant Identifiers: chr11:g.116652159_116652161del (hg19) ; chr11:g.116781443_116781445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116781445_116781447del , CM000673.2:g.116781445_116781447del	GRCh38
NC_000011.9:g.116652161_116652163del , CM000673.1:g.116652161_116652163del	GRCh37
NC_000011.8:g.116157371_116157373del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227322.8:c.1179+713_1179+715del MANE Select	ENSP00000227322.3:n.1179+713_1179+715del
ENST00000227322.7:c.1179+713_1179+715del	ENSP00000227322.3:n.1179+713_1179+715del
ENST00000429220.5:c.958+713_958+715del
ENST00000444935.5:c.1091+1474_1091+1476del
NM_003904.3:c.1179+713_1179+715del	NP_003895.1:n.1179+713_1179+715del
NM_001317086.1:c.1017+713_1017+715del	NP_001304015.1:n.1017+713_1017+715del
NM_003904.4:c.1179+713_1179+715del	NP_003895.1:n.1179+713_1179+715del
XR_001748023.2:n.2507+713_2507+715del
NM_003904.5:c.1179+713_1179+715del MANE Select	NP_003895.1:n.1179+713_1179+715del
NM_001317086.2:c.1017+713_1017+715del	NP_001304015.1:n.1017+713_1017+715del