Canonical Allele Identifier: CA817229081
Gene: REV3L HGNC NCBI
MFSD4B HGNC NCBI

Linked Data

dbSNP Id: rs1240527277

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.111307145_111307149del , CM000668.2:g.111307145_111307149del GRCh38
NC_000006.11:g.111628348_111628352del , CM000668.1:g.111628348_111628352del GRCh37
NC_000006.10:g.111735041_111735045del NCBI36
NG_053000.1:g.181573_181577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368802.8:c.9252+218_9252+222del (REV3L) MANE Select ENSP00000357792.3:n.9252+218_9252+222del
ENST00000666581.2:n.277+28987_277+28991del (MFSD4B)
ENST00000673245.1:n.273+11370_273+11374del (MFSD4B)
ENST00000673446.1:n.179+39308_179+39312del (MFSD4B)
ENST00000358835.7:c.9252+218_9252+222del (REV3L) ENSP00000351697.3:n.9252+218_9252+222del
ENST00000368802.7:c.9252+218_9252+222del (REV3L) ENSP00000357792.3:n.9252+218_9252+222del
ENST00000368805.5:c.9252+218_9252+222del (REV3L) ENSP00000357795.1:n.9252+218_9252+222del
ENST00000422377.5:c.*9236+218_*9236+222del (REV3L) ENSP00000393184.1:n.*9236+218_*9236+222del
ENST00000434009.5:c.*9343+218_*9343+222del (REV3L) ENSP00000391605.1:n.*9343+218_*9343+222del
ENST00000435970.5:c.9018+218_9018+222del (REV3L) ENSP00000402003.1:n.9018+218_9018+222del
ENST00000462119.5:n.1389+218_1389+222del (REV3L)
NM_001286431.1:c.9018+218_9018+222del (REV3L) NP_001273360.1:n.9018+218_9018+222del
NM_001286432.1:c.9018+218_9018+222del (REV3L) NP_001273361.1:n.9018+218_9018+222del
NM_002912.4:c.9252+218_9252+222del (REV3L) NP_002903.3:n.9252+218_9252+222del
XM_006715543.2:c.9252+218_9252+222del (REV3L) XP_006715606.1:n.9252+218_9252+222del
XM_006715544.2:c.9018+218_9018+222del (REV3L) XP_006715607.1:n.9018+218_9018+222del
XM_011536028.1:c.9333+218_9333+222del (REV3L) XP_011534330.1:n.9333+218_9333+222del
XM_011536029.1:c.9330+218_9330+222del (REV3L) XP_011534331.1:n.9330+218_9330+222del
XM_011536030.1:c.9255+218_9255+222del (REV3L) XP_011534332.1:n.9255+218_9255+222del
XM_011536031.1:c.9099+218_9099+222del (REV3L) XP_011534333.1:n.9099+218_9099+222del
XM_011536032.1:c.9099+218_9099+222del (REV3L) XP_011534334.1:n.9099+218_9099+222del
XR_942871.1:n.2045+28987_2045+28991del
XM_011536028.2:c.9333+218_9333+222del (REV3L) XP_011534330.1:n.9333+218_9333+222del
XM_011536029.3:c.9330+218_9330+222del (REV3L) XP_011534331.1:n.9330+218_9330+222del
XM_011536030.3:c.9255+218_9255+222del (REV3L) XP_011534332.1:n.9255+218_9255+222del
XM_011536031.3:c.9099+218_9099+222del (REV3L) XP_011534333.1:n.9099+218_9099+222del
XM_011536032.2:c.9099+218_9099+222del (REV3L) XP_011534334.1:n.9099+218_9099+222del
XM_017011152.2:c.9096+218_9096+222del (REV3L) XP_016866641.1:n.9096+218_9096+222del
XM_017011153.1:c.9096+218_9096+222del (REV3L) XP_016866642.1:n.9096+218_9096+222del
XM_017011154.1:c.9096+218_9096+222del (REV3L) XP_016866643.1:n.9096+218_9096+222del
XR_001743550.2:n.9438+218_9438+222del (REV3L)
XR_001743552.2:n.9360+218_9360+222del (REV3L)
XR_001743553.2:n.9756+218_9756+222del (REV3L)
XR_001743555.2:n.9678+218_9678+222del (REV3L)
XR_001743556.2:n.9485+218_9485+222del (REV3L)
XR_002956293.1:n.10696+218_10696+222del (REV3L)
NM_001286431.2:c.9018+218_9018+222del (REV3L) NP_001273360.1:n.9018+218_9018+222del
NM_001372078.1:c.9252+218_9252+222del (REV3L) MANE Select NP_001359007.1:n.9252+218_9252+222del
NM_001286432.2:c.9018+218_9018+222del (REV3L) NP_001273361.1:n.9018+218_9018+222del
NM_002912.5:c.9252+218_9252+222del (REV3L) NP_002903.3:n.9252+218_9252+222del