Canonical Allele Identifier: CA174260

Gene: ENTREP1

Linked Data

• ClinVar Variation Id: 161521
• ClinVar RCV Id: RCV000149056 ; RCV001636688
• dbSNP Id: rs193921010
• ExAC: 9:72000703 TA / T
• gnomAD v2: 9-72000703-TA-T
• gnomAD v3: 9-69385787-TA-T
• gnomAD v4: 9-69385787-TA-T
• MyVariant Identifiers: chr9:g.72000706del (hg19) ; chr9:g.72000704del (hg19) ; chr9:g.69385790del (hg38) ; chr9:g.69385788del (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69385790del , CM000671.2:g.69385790del	GRCh38
NC_000009.11:g.72000706del , CM000671.1:g.72000706del	GRCh37
NC_000009.10:g.71190526del	NCBI36
NG_052888.1:g.66219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303068.14:c.1163-5del MANE Select	ENSP00000304435.8:n.1163-5del
ENST00000303068.13:c.1163-5del	ENSP00000304435.8:n.1163-5del
ENST00000377216.4:c.*381-5del	ENSP00000366422.4:n.*381-5del
ENST00000455972.6:c.704-5del	ENSP00000395675.1:n.704-5del
ENST00000469179.2:n.497-5del
ENST00000643727.1:n.751-5del
ENST00000645123.1:n.4156-5del
ENST00000645516.1:n.535-5del
ENST00000257515.12:c.704-5del	ENSP00000257515.8:n.704-5del
ENST00000303068.11:c.209-5del	ENSP00000304435.7:n.209-5del
ENST00000455972.5:c.704-5del	ENSP00000395675.1:n.704-5del
ENST00000460871.1:n.534-5del
NM_001127608.1:c.704-5del	NP_001121080.1:n.704-5del
NM_004816.3:c.704-5del	NP_004807.3:n.704-5del
XM_005252307.3:c.1163-5del	XP_005252364.1:n.1163-5del
NM_001127608.2:c.704-5del	NP_001121080.1:n.704-5del
NM_001347995.1:c.1163-5del	NP_001334924.1:n.1163-5del
NM_004816.4:c.704-5del	NP_004807.3:n.704-5del
XM_017015324.1:c.776-5del	XP_016870813.1:n.776-5del
XM_017015325.1:c.704-5del	XP_016870814.1:n.704-5del
XM_024447718.1:c.704-5del	XP_024303486.1:n.704-5del
XR_001746421.1:n.808-5del
NM_001127608.3:c.704-5del	NP_001121080.1:n.704-5del
NM_001347995.2:c.1163-5del MANE Select	NP_001334924.1:n.1163-5del
NM_004816.5:c.704-5del	NP_004807.3:n.704-5del
NR_170669.1:n.799-5del