Canonical Allele Identifier: CA817229533

Gene: REV3L MFSD4B

Linked Data

• dbSNP Id: rs1310557590
• gnomAD v3: 6-111307654-G-GGCAT
• gnomAD v4: 6-111307654-G-GGCAT
• MyVariant Identifiers: chr6:g.111628857_111628858insGCAT (hg19) ; chr6:g.111307654_111307655insGCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.111307655_111307658dup , CM000668.2:g.111307655_111307658dup	GRCh38
NC_000006.11:g.111628858_111628861dup , CM000668.1:g.111628858_111628861dup	GRCh37
NC_000006.10:g.111735551_111735554dup	NCBI36
NG_053000.1:g.181058_181061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368802.8:c.9043-88_9043-85dup (REV3L) MANE Select	ENSP00000357792.3:n.9043-88_9043-85dup
ENST00000666581.2:n.277+29497_277+29500dup (MFSD4B)
ENST00000673245.1:n.273+11880_273+11883dup (MFSD4B)
ENST00000673446.1:n.179+39818_179+39821dup (MFSD4B)
ENST00000358835.7:c.9043-88_9043-85dup (REV3L)	ENSP00000351697.3:n.9043-88_9043-85dup
ENST00000368802.7:c.9043-88_9043-85dup (REV3L)	ENSP00000357792.3:n.9043-88_9043-85dup
ENST00000368805.5:c.9043-88_9043-85dup (REV3L)	ENSP00000357795.1:n.9043-88_9043-85dup
ENST00000422377.5:c.*9027-88_*9027-85dup (REV3L)	ENSP00000393184.1:n.*9027-88_*9027-85dup
ENST00000434009.5:c.*9134-88_*9134-85dup (REV3L)	ENSP00000391605.1:n.*9134-88_*9134-85dup
ENST00000435970.5:c.8809-88_8809-85dup (REV3L)	ENSP00000402003.1:n.8809-88_8809-85dup
ENST00000462119.5:n.1180-88_1180-85dup (REV3L)
NM_001286431.1:c.8809-88_8809-85dup (REV3L)	NP_001273360.1:n.8809-88_8809-85dup
NM_001286432.1:c.8809-88_8809-85dup (REV3L)	NP_001273361.1:n.8809-88_8809-85dup
NM_002912.4:c.9043-88_9043-85dup (REV3L)	NP_002903.3:n.9043-88_9043-85dup
XM_006715543.2:c.9043-88_9043-85dup (REV3L)	XP_006715606.1:n.9043-88_9043-85dup
XM_006715544.2:c.8809-88_8809-85dup (REV3L)	XP_006715607.1:n.8809-88_8809-85dup
XM_011536028.1:c.9124-88_9124-85dup (REV3L)	XP_011534330.1:n.9124-88_9124-85dup
XM_011536029.1:c.9121-88_9121-85dup (REV3L)	XP_011534331.1:n.9121-88_9121-85dup
XM_011536030.1:c.9046-88_9046-85dup (REV3L)	XP_011534332.1:n.9046-88_9046-85dup
XM_011536031.1:c.8890-88_8890-85dup (REV3L)	XP_011534333.1:n.8890-88_8890-85dup
XM_011536032.1:c.8890-88_8890-85dup (REV3L)	XP_011534334.1:n.8890-88_8890-85dup
XR_942871.1:n.2045+29497_2045+29500dup
XM_011536028.2:c.9124-88_9124-85dup (REV3L)	XP_011534330.1:n.9124-88_9124-85dup
XM_011536029.3:c.9121-88_9121-85dup (REV3L)	XP_011534331.1:n.9121-88_9121-85dup
XM_011536030.3:c.9046-88_9046-85dup (REV3L)	XP_011534332.1:n.9046-88_9046-85dup
XM_011536031.3:c.8890-88_8890-85dup (REV3L)	XP_011534333.1:n.8890-88_8890-85dup
XM_011536032.2:c.8890-88_8890-85dup (REV3L)	XP_011534334.1:n.8890-88_8890-85dup
XM_017011152.2:c.8887-88_8887-85dup (REV3L)	XP_016866641.1:n.8887-88_8887-85dup
XM_017011153.1:c.8887-88_8887-85dup (REV3L)	XP_016866642.1:n.8887-88_8887-85dup
XM_017011154.1:c.8887-88_8887-85dup (REV3L)	XP_016866643.1:n.8887-88_8887-85dup
XR_001743550.2:n.9229-88_9229-85dup (REV3L)
XR_001743552.2:n.9151-88_9151-85dup (REV3L)
XR_001743553.2:n.9547-88_9547-85dup (REV3L)
XR_001743555.2:n.9469-88_9469-85dup (REV3L)
XR_001743556.2:n.9276-88_9276-85dup (REV3L)
XR_002956293.1:n.10487-88_10487-85dup (REV3L)
NM_001286431.2:c.8809-88_8809-85dup (REV3L)	NP_001273360.1:n.8809-88_8809-85dup
NM_001372078.1:c.9043-88_9043-85dup (REV3L) MANE Select	NP_001359007.1:n.9043-88_9043-85dup
NM_001286432.2:c.8809-88_8809-85dup (REV3L)	NP_001273361.1:n.8809-88_8809-85dup
NM_002912.5:c.9043-88_9043-85dup (REV3L)	NP_002903.3:n.9043-88_9043-85dup