Canonical Allele Identifier: CA2679552965

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857271-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857273del , CM000668.2:g.83857273del	GRCh38
NC_000006.11:g.84566992del , CM000668.1:g.84566992del	GRCh37
NC_000006.10:g.84623711del	NCBI36
NG_046722.1:g.9008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.271del MANE Select	ENSP00000358703.1:p.Tyr91ThrfsTer10
ENST00000369687.2:c.97del	ENSP00000358701.1:p.Tyr33ThrfsTer10
ENST00000369689.5:c.271del	ENSP00000358703.1:p.Tyr91ThrfsTer10
ENST00000635617.1:n.3684del
NM_001009994.2:c.271del	NP_001009994.1:p.Tyr91ThrfsTer10
NR_103525.1:n.328del
NR_103525.2:n.266del
NM_001009994.3:c.271del MANE Select	NP_001009994.1:p.Tyr91ThrfsTer10
NM_001400774.1:c.-28+3112del	NP_001387703.1:n.-28+3112del
NM_001400899.1:c.334del	NP_001387828.1:p.Tyr112ThrfsTer10
NM_001400900.1:c.*3108del	NP_001387829.1:n.*3108del
NR_174603.1:n.234+3112del
NR_174604.1:n.296+3112del
NR_174605.1:n.455+3214del
NR_174622.1:n.3346del