Canonical Allele Identifier: CA1139656487

Gene: CRB1

Linked Data

• ClinVar Variation Id: 973908
• ClinVar RCV Id: RCV001250597
• dbSNP Id: rs1664343244

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421799del , CM000663.2:g.197421799del	GRCh38
NC_000001.10:g.197390929del , CM000663.1:g.197390929del	GRCh37
NC_000001.9:g.195657552del	NCBI36
NG_008483.1:g.158522del
NG_008483.2:g.225338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1971del MANE Select	ENSP00000356370.3:p.Asn657LysfsTer8
ENST00000638467.1:c.1971del	ENSP00000491102.1:p.Asn657LysfsTer8
ENST00000681519.1:c.852del	ENSP00000505267.1:p.Asn284LysfsTer8
ENST00000367397.1:c.114del	ENSP00000356367.1:p.Asn38LysfsTer8
ENST00000367399.6:c.1635del	ENSP00000356369.2:p.Asn545LysfsTer8
ENST00000367400.7:c.1971del	ENSP00000356370.3:p.Asn657LysfsTer8
ENST00000484075.5:c.1971del	ENSP00000433932.1:p.Asn657LysfsTer8
ENST00000535699.5:c.1764del	ENSP00000438786.1:p.Asn588LysfsTer8
ENST00000538660.5:c.1971del	ENSP00000438091.1:p.Asn657LysfsTer8
NM_001193640.1:c.1635del	NP_001180569.1:p.Asn545LysfsTer8
NM_001257965.1:c.1764del	NP_001244894.1:p.Asn588LysfsTer8
NM_001257966.1:c.1971del	NP_001244895.1:p.Asn657LysfsTer8
NM_201253.2:c.1971del	NP_957705.1:p.Asn657LysfsTer8
NR_047563.1:n.1972del
NR_047564.1:n.2180del
XM_011509365.1:c.1971del	XP_011507667.1:p.Asn657LysfsTer8
XM_011509366.1:c.1971del	XP_011507668.1:p.Asn657LysfsTer8
XM_011509367.1:c.1971del	XP_011507669.1:p.Asn657LysfsTer8
XM_011509368.1:c.1389del	XP_011507670.1:p.Asn463LysfsTer8
XM_011509369.1:c.414del	XP_011507671.1:p.Asn138LysfsTer8
XM_011509365.2:c.1971del	XP_011507667.1:p.Asn657LysfsTer8
XM_011509369.2:c.414del	XP_011507671.1:p.Asn138LysfsTer8
XM_017000851.1:c.1128del	XP_016856340.1:p.Asn376LysfsTer8
XM_017000852.1:c.1971del	XP_016856341.1:p.Asn657LysfsTer8
NM_201253.3:c.1971del MANE Select	NP_957705.1:p.Asn657LysfsTer8
NM_001193640.2:c.1635del	NP_001180569.1:p.Asn545LysfsTer8
NM_001257965.2:c.1764del	NP_001244894.1:p.Asn588LysfsTer8
NR_047563.2:n.1924del
NR_047564.2:n.2132del
NM_001257966.2:c.1971del	NP_001244895.1:p.Asn657LysfsTer8