Canonical Allele Identifier: CA817229092

Gene: REV3L MFSD4B

Linked Data

• dbSNP Id: rs1416833532
• gnomAD v3: 6-111307183-AAAC-A
• gnomAD v4: 6-111307183-AAAC-A
• MyVariant Identifiers: chr6:g.111628387_111628389del (hg19) ; chr6:g.111307184_111307186del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.111307186_111307188del , CM000668.2:g.111307186_111307188del	GRCh38
NC_000006.11:g.111628389_111628391del , CM000668.1:g.111628389_111628391del	GRCh37
NC_000006.10:g.111735082_111735084del	NCBI36
NG_053000.1:g.181530_181532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368802.8:c.9252+175_9252+177del (REV3L) MANE Select	ENSP00000357792.3:n.9252+175_9252+177del
ENST00000666581.2:n.277+29028_277+29030del (MFSD4B)
ENST00000673245.1:n.273+11411_273+11413del (MFSD4B)
ENST00000673446.1:n.179+39349_179+39351del (MFSD4B)
ENST00000358835.7:c.9252+175_9252+177del (REV3L)	ENSP00000351697.3:n.9252+175_9252+177del
ENST00000368802.7:c.9252+175_9252+177del (REV3L)	ENSP00000357792.3:n.9252+175_9252+177del
ENST00000368805.5:c.9252+175_9252+177del (REV3L)	ENSP00000357795.1:n.9252+175_9252+177del
ENST00000422377.5:c.*9236+175_*9236+177del (REV3L)	ENSP00000393184.1:n.*9236+175_*9236+177del
ENST00000434009.5:c.*9343+175_*9343+177del (REV3L)	ENSP00000391605.1:n.*9343+175_*9343+177del
ENST00000435970.5:c.9018+175_9018+177del (REV3L)	ENSP00000402003.1:n.9018+175_9018+177del
ENST00000462119.5:n.1389+175_1389+177del (REV3L)
NM_001286431.1:c.9018+175_9018+177del (REV3L)	NP_001273360.1:n.9018+175_9018+177del
NM_001286432.1:c.9018+175_9018+177del (REV3L)	NP_001273361.1:n.9018+175_9018+177del
NM_002912.4:c.9252+175_9252+177del (REV3L)	NP_002903.3:n.9252+175_9252+177del
XM_006715543.2:c.9252+175_9252+177del (REV3L)	XP_006715606.1:n.9252+175_9252+177del
XM_006715544.2:c.9018+175_9018+177del (REV3L)	XP_006715607.1:n.9018+175_9018+177del
XM_011536028.1:c.9333+175_9333+177del (REV3L)	XP_011534330.1:n.9333+175_9333+177del
XM_011536029.1:c.9330+175_9330+177del (REV3L)	XP_011534331.1:n.9330+175_9330+177del
XM_011536030.1:c.9255+175_9255+177del (REV3L)	XP_011534332.1:n.9255+175_9255+177del
XM_011536031.1:c.9099+175_9099+177del (REV3L)	XP_011534333.1:n.9099+175_9099+177del
XM_011536032.1:c.9099+175_9099+177del (REV3L)	XP_011534334.1:n.9099+175_9099+177del
XR_942871.1:n.2045+29028_2045+29030del
XM_011536028.2:c.9333+175_9333+177del (REV3L)	XP_011534330.1:n.9333+175_9333+177del
XM_011536029.3:c.9330+175_9330+177del (REV3L)	XP_011534331.1:n.9330+175_9330+177del
XM_011536030.3:c.9255+175_9255+177del (REV3L)	XP_011534332.1:n.9255+175_9255+177del
XM_011536031.3:c.9099+175_9099+177del (REV3L)	XP_011534333.1:n.9099+175_9099+177del
XM_011536032.2:c.9099+175_9099+177del (REV3L)	XP_011534334.1:n.9099+175_9099+177del
XM_017011152.2:c.9096+175_9096+177del (REV3L)	XP_016866641.1:n.9096+175_9096+177del
XM_017011153.1:c.9096+175_9096+177del (REV3L)	XP_016866642.1:n.9096+175_9096+177del
XM_017011154.1:c.9096+175_9096+177del (REV3L)	XP_016866643.1:n.9096+175_9096+177del
XR_001743550.2:n.9438+175_9438+177del (REV3L)
XR_001743552.2:n.9360+175_9360+177del (REV3L)
XR_001743553.2:n.9756+175_9756+177del (REV3L)
XR_001743555.2:n.9678+175_9678+177del (REV3L)
XR_001743556.2:n.9485+175_9485+177del (REV3L)
XR_002956293.1:n.10696+175_10696+177del (REV3L)
NM_001286431.2:c.9018+175_9018+177del (REV3L)	NP_001273360.1:n.9018+175_9018+177del
NM_001372078.1:c.9252+175_9252+177del (REV3L) MANE Select	NP_001359007.1:n.9252+175_9252+177del
NM_001286432.2:c.9018+175_9018+177del (REV3L)	NP_001273361.1:n.9018+175_9018+177del
NM_002912.5:c.9252+175_9252+177del (REV3L)	NP_002903.3:n.9252+175_9252+177del