Canonical Allele Identifier: CA2657079055

Gene: CYB5R3 A4GALT

Linked Data

• gnomAD v4: 22-42692921-G-GTGGGGCAGTAGCGGGCATGCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42692926_42692948dup , CM000684.2:g.42692926_42692948dup	GRCh38
NC_000022.10:g.43088932_43088954dup , CM000684.1:g.43088932_43088954dup	GRCh37
NC_000022.9:g.41418876_41418898dup	NCBI36
NG_007495.1:g.32927_32949dup
NG_007495.2:g.33358_33380dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686129.1:c.-49+27853_-49+27875dup (CYB5R3)	ENSP00000508623.1:n.-49+27853_-49+27875dup
ENST00000249005.3:c.1008_1030dup (A4GALT)	ENSP00000249005.2:p.Thr344SerfsTer14
ENST00000381278.4:c.1008_1030dup (A4GALT)	ENSP00000370678.3:p.Thr344SerfsTer14
ENST00000642412.2:c.1008_1030dup (A4GALT) MANE Select	ENSP00000494127.1:p.Thr344SerfsTer14
ENST00000249005.2:c.1008_1030dup (A4GALT)	ENSP00000249005.2:p.Thr344SerfsTer14
ENST00000381278.3:c.1008_1030dup (A4GALT)	ENSP00000370678.3:p.Thr344SerfsTer14
ENST00000401850.5:c.1008_1030dup (A4GALT)	ENSP00000384794.1:p.Thr344SerfsTer14
NM_017436.4:c.1008_1030dup (A4GALT)	NP_059132.1:p.Thr344SerfsTer14
XM_005261643.1:c.1008_1030dup (A4GALT)	XP_005261700.1:p.Thr344SerfsTer14
XM_005261644.1:c.1008_1030dup (A4GALT)	XP_005261701.1:p.Thr344SerfsTer14
XM_005261646.3:c.1008_1030dup (A4GALT)	XP_005261703.1:p.Thr344SerfsTer14
XM_005261647.1:c.1008_1030dup (A4GALT)	XP_005261704.1:p.Thr344SerfsTer14
XM_005261648.2:c.1008_1030dup (A4GALT)	XP_005261705.1:p.Thr344SerfsTer14
XM_006724265.2:c.1008_1030dup (A4GALT)	XP_006724328.1:p.Thr344SerfsTer14
XM_006724266.2:c.1008_1030dup (A4GALT)	XP_006724329.1:p.Thr344SerfsTer14
XM_011530233.1:c.1008_1030dup (A4GALT)	XP_011528535.1:p.Thr344SerfsTer14
XM_011530234.1:c.1008_1030dup (A4GALT)	XP_011528536.1:p.Thr344SerfsTer14
NM_001318038.2:c.1008_1030dup (A4GALT)	NP_001304967.1:p.Thr344SerfsTer14
NM_017436.6:c.1008_1030dup (A4GALT)	NP_059132.1:p.Thr344SerfsTer14
XM_005261644.2:c.1008_1030dup (A4GALT)	XP_005261701.1:p.Thr344SerfsTer14
XM_005261646.4:c.1008_1030dup (A4GALT)	XP_005261703.1:p.Thr344SerfsTer14
XM_005261647.3:c.1008_1030dup (A4GALT)	XP_005261704.1:p.Thr344SerfsTer14
XM_005261648.4:c.1008_1030dup (A4GALT)	XP_005261705.1:p.Thr344SerfsTer14
XM_006724265.3:c.1008_1030dup (A4GALT)	XP_006724328.1:p.Thr344SerfsTer14
XM_006724266.3:c.1008_1030dup (A4GALT)	XP_006724329.1:p.Thr344SerfsTer14
XM_011530233.2:c.1008_1030dup (A4GALT)	XP_011528535.1:p.Thr344SerfsTer14
XM_017028831.1:c.1008_1030dup (A4GALT)	XP_016884320.1:p.Thr344SerfsTer14
NM_017436.7:c.1008_1030dup (A4GALT) MANE Select	NP_059132.1:p.Thr344SerfsTer14
NM_001318038.3:c.1008_1030dup (A4GALT)	NP_001304967.1:p.Thr344SerfsTer14