Canonical Allele Identifier: CA2679552963

Gene: RIPPLY2

Linked Data

• gnomAD v4: 6-83857253-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857257del , CM000668.2:g.83857257del	GRCh38
NC_000006.11:g.84566976del , CM000668.1:g.84566976del	GRCh37
NC_000006.10:g.84623695del	NCBI36
NG_046722.1:g.8992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.255del MANE Select	ENSP00000358703.1:p.Lys85AsnfsTer16
ENST00000369687.2:c.81del	ENSP00000358701.1:p.Lys27AsnfsTer16
ENST00000369689.5:c.255del	ENSP00000358703.1:p.Lys85AsnfsTer16
ENST00000635617.1:n.3668del
NM_001009994.2:c.255del	NP_001009994.1:p.Lys85AsnfsTer16
NR_103525.1:n.312del
NR_103525.2:n.250del
NM_001009994.3:c.255del MANE Select	NP_001009994.1:p.Lys85AsnfsTer16
NM_001400774.1:c.-28+3096del	NP_001387703.1:n.-28+3096del
NM_001400899.1:c.318del	NP_001387828.1:p.Lys106AsnfsTer16
NM_001400900.1:c.*3092del	NP_001387829.1:n.*3092del
NR_174603.1:n.234+3096del
NR_174604.1:n.296+3096del
NR_174605.1:n.455+3198del
NR_174622.1:n.3330del