Canonical Allele Identifier: CA6469538

Gene: RERGL

Linked Data

• ClinVar Variation Id: 714175
• ClinVar RCV Id: RCV000886444
• dbSNP Id: rs367672198
• ExAC: 12:18238616 TATAG / T
• gnomAD v2: 12-18238616-TATAG-T
• gnomAD v3: 12-18085682-TATAG-T
• gnomAD v4: 12-18085682-TATAG-T
• MyVariant Identifiers: chr12:g.18238617_18238620del (hg19) ; chr12:g.18085684_18085687del (hg38) ; chr12:g.18085683_18085686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.18085689_18085692del , CM000674.2:g.18085689_18085692del	GRCh38
NC_000012.11:g.18238623_18238626del , CM000674.1:g.18238623_18238626del	GRCh37
NC_000012.10:g.18129890_18129893del	NCBI36
NG_052618.1:g.9508_9511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538724.6:c.117_120del MANE Select	ENSP00000437814.1:p.Tyr40ArgfsTer11
ENST00000229002.6:c.120_123del	ENSP00000229002.2:p.Tyr41ArgfsTer11
ENST00000536890.1:c.117_120del	ENSP00000437490.1:p.Tyr40ArgfsTer11
ENST00000538724.5:c.117_120del	ENSP00000437814.1:p.Tyr40ArgfsTer11
ENST00000540148.5:n.126_129del
ENST00000541632.1:n.406_409del
NM_001286201.1:c.117_120del	NP_001273130.1:p.Tyr40ArgfsTer11
NM_024730.3:c.120_123del	NP_079006.1:p.Tyr41ArgfsTer11
NR_104413.1:n.170_173del
NM_001286201.2:c.117_120del MANE Select	NP_001273130.1:p.Tyr40ArgfsTer11
NM_024730.4:c.120_123del	NP_079006.1:p.Tyr41ArgfsTer11