Canonical Allele Identifier: CA1654866760
Gene: REV3L HGNC NCBI
MFSD4B HGNC NCBI

Linked Data

dbSNP Id: rs1672176749

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.111307174_111307175del , CM000668.2:g.111307174_111307175del GRCh38
NC_000006.11:g.111628377_111628378del , CM000668.1:g.111628377_111628378del GRCh37
NC_000006.10:g.111735070_111735071del NCBI36
NG_053000.1:g.181542_181543del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368802.8:c.9252+187_9252+188del (REV3L) MANE Select ENSP00000357792.3:n.9252+187_9252+188del
ENST00000666581.2:n.277+29016_277+29017del (MFSD4B)
ENST00000673245.1:n.273+11399_273+11400del (MFSD4B)
ENST00000673446.1:n.179+39337_179+39338del (MFSD4B)
ENST00000358835.7:c.9252+187_9252+188del (REV3L) ENSP00000351697.3:n.9252+187_9252+188del
ENST00000368802.7:c.9252+187_9252+188del (REV3L) ENSP00000357792.3:n.9252+187_9252+188del
ENST00000368805.5:c.9252+187_9252+188del (REV3L) ENSP00000357795.1:n.9252+187_9252+188del
ENST00000422377.5:c.*9236+187_*9236+188del (REV3L) ENSP00000393184.1:n.*9236+187_*9236+188del
ENST00000434009.5:c.*9343+187_*9343+188del (REV3L) ENSP00000391605.1:n.*9343+187_*9343+188del
ENST00000435970.5:c.9018+187_9018+188del (REV3L) ENSP00000402003.1:n.9018+187_9018+188del
ENST00000462119.5:n.1389+187_1389+188del (REV3L)
NM_001286431.1:c.9018+187_9018+188del (REV3L) NP_001273360.1:n.9018+187_9018+188del
NM_001286432.1:c.9018+187_9018+188del (REV3L) NP_001273361.1:n.9018+187_9018+188del
NM_002912.4:c.9252+187_9252+188del (REV3L) NP_002903.3:n.9252+187_9252+188del
XM_006715543.2:c.9252+187_9252+188del (REV3L) XP_006715606.1:n.9252+187_9252+188del
XM_006715544.2:c.9018+187_9018+188del (REV3L) XP_006715607.1:n.9018+187_9018+188del
XM_011536028.1:c.9333+187_9333+188del (REV3L) XP_011534330.1:n.9333+187_9333+188del
XM_011536029.1:c.9330+187_9330+188del (REV3L) XP_011534331.1:n.9330+187_9330+188del
XM_011536030.1:c.9255+187_9255+188del (REV3L) XP_011534332.1:n.9255+187_9255+188del
XM_011536031.1:c.9099+187_9099+188del (REV3L) XP_011534333.1:n.9099+187_9099+188del
XM_011536032.1:c.9099+187_9099+188del (REV3L) XP_011534334.1:n.9099+187_9099+188del
XR_942871.1:n.2045+29016_2045+29017del
XM_011536028.2:c.9333+187_9333+188del (REV3L) XP_011534330.1:n.9333+187_9333+188del
XM_011536029.3:c.9330+187_9330+188del (REV3L) XP_011534331.1:n.9330+187_9330+188del
XM_011536030.3:c.9255+187_9255+188del (REV3L) XP_011534332.1:n.9255+187_9255+188del
XM_011536031.3:c.9099+187_9099+188del (REV3L) XP_011534333.1:n.9099+187_9099+188del
XM_011536032.2:c.9099+187_9099+188del (REV3L) XP_011534334.1:n.9099+187_9099+188del
XM_017011152.2:c.9096+187_9096+188del (REV3L) XP_016866641.1:n.9096+187_9096+188del
XM_017011153.1:c.9096+187_9096+188del (REV3L) XP_016866642.1:n.9096+187_9096+188del
XM_017011154.1:c.9096+187_9096+188del (REV3L) XP_016866643.1:n.9096+187_9096+188del
XR_001743550.2:n.9438+187_9438+188del (REV3L)
XR_001743552.2:n.9360+187_9360+188del (REV3L)
XR_001743553.2:n.9756+187_9756+188del (REV3L)
XR_001743555.2:n.9678+187_9678+188del (REV3L)
XR_001743556.2:n.9485+187_9485+188del (REV3L)
XR_002956293.1:n.10696+187_10696+188del (REV3L)
NM_001286431.2:c.9018+187_9018+188del (REV3L) NP_001273360.1:n.9018+187_9018+188del
NM_001372078.1:c.9252+187_9252+188del (REV3L) MANE Select NP_001359007.1:n.9252+187_9252+188del
NM_001286432.2:c.9018+187_9018+188del (REV3L) NP_001273361.1:n.9018+187_9018+188del
NM_002912.5:c.9252+187_9252+188del (REV3L) NP_002903.3:n.9252+187_9252+188del