Canonical Allele Identifier: CA2747248274

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434787_197434788insACACACC , CM000663.2:g.197434787_197434788insACACACC	GRCh38
NC_000001.10:g.197403917_197403918insACACACC , CM000663.1:g.197403917_197403918insACACACC	GRCh37
NC_000001.9:g.195670540_195670541insACACACC	NCBI36
NG_008483.1:g.171510_171511insACACACC
NG_008483.2:g.238326_238327insACACACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2924_2925insACACACC MANE Select	ENSP00000356370.3:p.Asn975LysfsTer25
ENST00000638467.1:c.2924_2925insACACACC	ENSP00000491102.1:p.Asn975LysfsTer25
ENST00000681519.1:c.1805_1806insACACACC	ENSP00000505267.1:p.Asn602LysfsTer25
ENST00000367397.1:c.1067_1068insACACACC	ENSP00000356367.1:p.Asn356LysfsTer25
ENST00000367399.6:c.2588_2589insACACACC	ENSP00000356369.2:p.Asn863LysfsTer25
ENST00000367400.7:c.2924_2925insACACACC	ENSP00000356370.3:p.Asn975LysfsTer25
ENST00000484075.5:c.2924_2925insACACACC	ENSP00000433932.1:p.Asn975LysfsTer25
ENST00000535699.5:c.2852_2853insACACACC	ENSP00000438786.1:p.Asn951LysfsTer25
ENST00000538660.5:c.2129-813_2129-812insACACACC	ENSP00000438091.1:n.2129-813_2129-812insACACACC
NM_001193640.1:c.2588_2589insACACACC	NP_001180569.1:p.Asn863LysfsTer25
NM_001257965.1:c.2852_2853insACACACC	NP_001244894.1:p.Asn951LysfsTer25
NM_001257966.1:c.2129-813_2129-812insACACACC	NP_001244895.1:n.2129-813_2129-812insACACACC
NM_201253.2:c.2924_2925insACACACC	NP_957705.1:p.Asn975LysfsTer25
NR_047563.1:n.2925_2926insACACACC
NR_047564.1:n.3133_3134insACACACC
XM_011509365.1:c.2924_2925insACACACC	XP_011507667.1:p.Asn975LysfsTer25
XM_011509366.1:c.2924_2925insACACACC	XP_011507668.1:p.Asn975LysfsTer25
XM_011509367.1:c.2924_2925insACACACC	XP_011507669.1:p.Asn975LysfsTer25
XM_011509368.1:c.2342_2343insACACACC	XP_011507670.1:p.Asn781LysfsTer25
XM_011509369.1:c.1367_1368insACACACC	XP_011507671.1:p.Asn456LysfsTer25
XM_011509365.2:c.2924_2925insACACACC	XP_011507667.1:p.Asn975LysfsTer25
XM_011509369.2:c.1367_1368insACACACC	XP_011507671.1:p.Asn456LysfsTer25
XM_017000851.1:c.2081_2082insACACACC	XP_016856340.1:p.Asn694LysfsTer25
XM_017000852.1:c.3059_3060insACACACC	XP_016856341.1:p.Asn1020LysfsTer25
NM_201253.3:c.2924_2925insACACACC MANE Select	NP_957705.1:p.Asn975LysfsTer25
NM_001193640.2:c.2588_2589insACACACC	NP_001180569.1:p.Asn863LysfsTer25
NM_001257965.2:c.2852_2853insACACACC	NP_001244894.1:p.Asn951LysfsTer25
NR_047563.2:n.2877_2878insACACACC
NR_047564.2:n.3085_3086insACACACC
NM_001257966.2:c.2129-813_2129-812insACACACC	NP_001244895.1:n.2129-813_2129-812insACACACC