Canonical Allele Identifier: CA2679552962

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857245-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857249del , CM000668.2:g.83857249del	GRCh38
NC_000006.11:g.84566968del , CM000668.1:g.84566968del	GRCh37
NC_000006.10:g.84623687del	NCBI36
NG_046722.1:g.8984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.247del MANE Select	ENSP00000358703.1:p.Trp83GlyfsTer18
ENST00000369687.2:c.73del	ENSP00000358701.1:p.Trp25GlyfsTer18
ENST00000369689.5:c.247del	ENSP00000358703.1:p.Trp83GlyfsTer18
ENST00000635617.1:n.3660del
NM_001009994.2:c.247del	NP_001009994.1:p.Trp83GlyfsTer18
NR_103525.1:n.304del
NR_103525.2:n.242del
NM_001009994.3:c.247del MANE Select	NP_001009994.1:p.Trp83GlyfsTer18
NM_001400774.1:c.-28+3088del	NP_001387703.1:n.-28+3088del
NM_001400899.1:c.310del	NP_001387828.1:p.Trp104GlyfsTer18
NM_001400900.1:c.*3084del	NP_001387829.1:n.*3084del
NR_174603.1:n.234+3088del
NR_174604.1:n.296+3088del
NR_174605.1:n.455+3190del
NR_174622.1:n.3322del