Canonical Allele Identifier: CA2687301871

Gene: RP1

Linked Data

• gnomAD v4: 8-54627642-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627642_54627643insA , CM000670.2:g.54627642_54627643insA	GRCh38
NC_000008.10:g.55540202_55540203insA , CM000670.1:g.55540202_55540203insA	GRCh37
NC_000008.9:g.55702755_55702756insA	NCBI36
NG_009840.1:g.16576_16577insA
NG_009840.2:g.16576_16577insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3760_3761insA MANE Select	ENSP00000220676.1:p.Val1254AspfsTer7
ENST00000636932.1:c.787+5354_787+5355insA	ENSP00000489857.1:n.787+5354_787+5355insA
ENST00000637698.1:c.787+5354_787+5355insA	ENSP00000490104.1:n.787+5354_787+5355insA
ENST00000220676.1:c.3760_3761insA	ENSP00000220676.1:p.Val1254AspfsTer7
NM_006269.1:c.3760_3761insA	NP_006260.1:p.Val1254AspfsTer7
XM_017013721.1:c.3781_3782insA	XP_016869210.1:p.Val1261AspfsTer7
XM_017013722.1:c.3760_3761insA	XP_016869211.1:p.Val1254AspfsTer7
NM_001375654.1:c.787+5354_787+5355insA	NP_001362583.1:n.787+5354_787+5355insA
NM_006269.2:c.3760_3761insA MANE Select	NP_006260.1:p.Val1254AspfsTer7