Canonical Allele Identifier: CA1218066359

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427855_197427862delinsAATGGTGG , CM000663.2:g.197427855_197427862delinsAATGGTGG	GRCh38
NC_000001.10:g.197396985_197396992delinsAATGGTGG , CM000663.1:g.197396985_197396992delinsAATGGTGG	GRCh37
NC_000001.9:g.195663608_195663615delinsAATGGTGG	NCBI36
NG_008483.1:g.164578_164585delinsAATGGTGG
NG_008483.2:g.231394_231401delinsAATGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2530_2537delinsAATGGTGG MANE Select	ENSP00000356370.3:p.Asn844=
ENST00000638467.1:c.2530_2537delinsAATGGTGG	ENSP00000491102.1:p.Asn844=
ENST00000681519.1:c.1411_1418delinsAATGGTGG	ENSP00000505267.1:p.Asn471=
ENST00000367397.1:c.673_680delinsAATGGTGG	ENSP00000356367.1:p.Asn225=
ENST00000367399.6:c.2194_2201delinsAATGGTGG	ENSP00000356369.2:p.Asn732=
ENST00000367400.7:c.2530_2537delinsAATGGTGG	ENSP00000356370.3:p.Asn844=
ENST00000484075.5:c.2530_2537delinsAATGGTGG	ENSP00000433932.1:p.Asn844=
ENST00000535699.5:c.2323_2330delinsAATGGTGG	ENSP00000438786.1:p.Asn775=
ENST00000538660.5:c.2128+5899_2128+5906delinsAATGGTGG	ENSP00000438091.1:n.2128+5899_2128+5906delinsAATGGTGG
NM_001193640.1:c.2194_2201delinsAATGGTGG	NP_001180569.1:p.Asn732=
NM_001257965.1:c.2323_2330delinsAATGGTGG	NP_001244894.1:p.Asn775=
NM_001257966.1:c.2128+5899_2128+5906delinsAATGGTGG	NP_001244895.1:n.2128+5899_2128+5906delinsAATGGTGG
NM_201253.2:c.2530_2537delinsAATGGTGG	NP_957705.1:p.Asn844=
NR_047563.1:n.2531_2538delinsAATGGTGG
NR_047564.1:n.2739_2746delinsAATGGTGG
XM_011509365.1:c.2530_2537delinsAATGGTGG	XP_011507667.1:p.Asn844=
XM_011509366.1:c.2530_2537delinsAATGGTGG	XP_011507668.1:p.Asn844=
XM_011509367.1:c.2530_2537delinsAATGGTGG	XP_011507669.1:p.Asn844=
XM_011509368.1:c.1948_1955delinsAATGGTGG	XP_011507670.1:p.Asn650=
XM_011509369.1:c.973_980delinsAATGGTGG	XP_011507671.1:p.Asn325=
XM_011509365.2:c.2530_2537delinsAATGGTGG	XP_011507667.1:p.Asn844=
XM_011509369.2:c.973_980delinsAATGGTGG	XP_011507671.1:p.Asn325=
XM_017000851.1:c.1687_1694delinsAATGGTGG	XP_016856340.1:p.Asn563=
XM_017000852.1:c.2530_2537delinsAATGGTGG	XP_016856341.1:p.Asn844=
NM_201253.3:c.2530_2537delinsAATGGTGG MANE Select	NP_957705.1:p.Asn844=
NM_001193640.2:c.2194_2201delinsAATGGTGG	NP_001180569.1:p.Asn732=
NM_001257965.2:c.2323_2330delinsAATGGTGG	NP_001244894.1:p.Asn775=
NR_047563.2:n.2483_2490delinsAATGGTGG
NR_047564.2:n.2691_2698delinsAATGGTGG
NM_001257966.2:c.2128+5899_2128+5906delinsAATGGTGG	NP_001244895.1:n.2128+5899_2128+5906delinsAATGGTGG