Canonical Allele Identifier: CA2680019603

Gene: REV3L MFSD4B

Linked Data

• gnomAD v4: 6-111307405-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.111307406_111307407del , CM000668.2:g.111307406_111307407del	GRCh38
NC_000006.11:g.111628609_111628610del , CM000668.1:g.111628609_111628610del	GRCh37
NC_000006.10:g.111735302_111735303del	NCBI36
NG_053000.1:g.181309_181310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368802.8:c.9206_9207del (REV3L) MANE Select	ENSP00000357792.3:p.Asn3069ThrfsTer25
ENST00000666581.2:n.277+29248_277+29249del (MFSD4B)
ENST00000673245.1:n.273+11631_273+11632del (MFSD4B)
ENST00000673446.1:n.179+39569_179+39570del (MFSD4B)
ENST00000358835.7:c.9206_9207del (REV3L)	ENSP00000351697.3:p.Asn3069ThrfsTer25
ENST00000368802.7:c.9206_9207del (REV3L)	ENSP00000357792.3:p.Asn3069ThrfsTer25
ENST00000368805.5:c.9206_9207del (REV3L)	ENSP00000357795.1:p.Asn3069ThrfsTer25
ENST00000422377.5:c.*9190_*9191del (REV3L)	ENSP00000393184.1:n.*9190_*9191del
ENST00000434009.5:c.*9297_*9298del (REV3L)	ENSP00000391605.1:n.*9297_*9298del
ENST00000435970.5:c.8972_8973del (REV3L)	ENSP00000402003.1:p.Asn2991ThrfsTer25
ENST00000462119.5:n.1343_1344del (REV3L)
NM_001286431.1:c.8972_8973del (REV3L)	NP_001273360.1:p.Asn2991ThrfsTer25
NM_001286432.1:c.8972_8973del (REV3L)	NP_001273361.1:p.Asn2991ThrfsTer25
NM_002912.4:c.9206_9207del (REV3L)	NP_002903.3:p.Asn3069ThrfsTer25
XM_006715543.2:c.9206_9207del (REV3L)	XP_006715606.1:p.Asn3069ThrfsTer25
XM_006715544.2:c.8972_8973del (REV3L)	XP_006715607.1:p.Asn2991ThrfsTer25
XM_011536028.1:c.9287_9288del (REV3L)	XP_011534330.1:p.Asn3096ThrfsTer25
XM_011536029.1:c.9284_9285del (REV3L)	XP_011534331.1:p.Asn3095ThrfsTer25
XM_011536030.1:c.9209_9210del (REV3L)	XP_011534332.1:p.Asn3070ThrfsTer25
XM_011536031.1:c.9053_9054del (REV3L)	XP_011534333.1:p.Asn3018ThrfsTer25
XM_011536032.1:c.9053_9054del (REV3L)	XP_011534334.1:p.Asn3018ThrfsTer25
XR_942871.1:n.2045+29248_2045+29249del
XM_011536028.2:c.9287_9288del (REV3L)	XP_011534330.1:p.Asn3096ThrfsTer25
XM_011536029.3:c.9284_9285del (REV3L)	XP_011534331.1:p.Asn3095ThrfsTer25
XM_011536030.3:c.9209_9210del (REV3L)	XP_011534332.1:p.Asn3070ThrfsTer25
XM_011536031.3:c.9053_9054del (REV3L)	XP_011534333.1:p.Asn3018ThrfsTer25
XM_011536032.2:c.9053_9054del (REV3L)	XP_011534334.1:p.Asn3018ThrfsTer25
XM_017011152.2:c.9050_9051del (REV3L)	XP_016866641.1:p.Asn3017ThrfsTer25
XM_017011153.1:c.9050_9051del (REV3L)	XP_016866642.1:p.Asn3017ThrfsTer25
XM_017011154.1:c.9050_9051del (REV3L)	XP_016866643.1:p.Asn3017ThrfsTer25
XR_001743550.2:n.9392_9393del (REV3L)
XR_001743552.2:n.9314_9315del (REV3L)
XR_001743553.2:n.9710_9711del (REV3L)
XR_001743555.2:n.9632_9633del (REV3L)
XR_001743556.2:n.9439_9440del (REV3L)
XR_002956293.1:n.10650_10651del (REV3L)
NM_001286431.2:c.8972_8973del (REV3L)	NP_001273360.1:p.Asn2991ThrfsTer25
NM_001372078.1:c.9206_9207del (REV3L) MANE Select	NP_001359007.1:p.Asn3069ThrfsTer25
NM_001286432.2:c.8972_8973del (REV3L)	NP_001273361.1:p.Asn2991ThrfsTer25
NM_002912.5:c.9206_9207del (REV3L)	NP_002903.3:p.Asn3069ThrfsTer25