Canonical Allele Identifier: CA2657078468

Gene: CYB5R3 A4GALT

Linked Data

• gnomAD v4: 22-42692649-GCACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42692654_42692657del , CM000684.2:g.42692654_42692657del	GRCh38
NC_000022.10:g.43088660_43088663del , CM000684.1:g.43088660_43088663del	GRCh37
NC_000022.9:g.41418604_41418607del	NCBI36
NG_007495.1:g.33218_33221del
NG_007495.2:g.33649_33652del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686129.1:c.-49+28144_-49+28147del (CYB5R3)	ENSP00000508623.1:n.-49+28144_-49+28147del
ENST00000249005.3:c.*237_*240del (A4GALT)	ENSP00000249005.2:n.*237_*240del
ENST00000381278.4:c.*237_*240del (A4GALT)	ENSP00000370678.3:n.*237_*240del
ENST00000642412.2:c.*237_*240del (A4GALT) MANE Select	ENSP00000494127.1:n.*237_*240del
ENST00000249005.2:c.*237_*240del (A4GALT)	ENSP00000249005.2:n.*237_*240del
ENST00000381278.3:c.*237_*240del (A4GALT)	ENSP00000370678.3:n.*237_*240del
ENST00000401850.5:c.*237_*240del (A4GALT)	ENSP00000384794.1:n.*237_*240del
NM_017436.4:c.*237_*240del (A4GALT)	NP_059132.1:n.*237_*240del
XM_005261643.1:c.*237_*240del (A4GALT)	XP_005261700.1:n.*237_*240del
XM_005261644.1:c.*237_*240del (A4GALT)	XP_005261701.1:n.*237_*240del
XM_005261646.3:c.*237_*240del (A4GALT)	XP_005261703.1:n.*237_*240del
XM_005261647.1:c.*237_*240del (A4GALT)	XP_005261704.1:n.*237_*240del
XM_005261648.2:c.*237_*240del (A4GALT)	XP_005261705.1:n.*237_*240del
XM_006724265.2:c.*237_*240del (A4GALT)	XP_006724328.1:n.*237_*240del
XM_006724266.2:c.*237_*240del (A4GALT)	XP_006724329.1:n.*237_*240del
XM_011530233.1:c.*237_*240del (A4GALT)	XP_011528535.1:n.*237_*240del
XM_011530234.1:c.*237_*240del (A4GALT)	XP_011528536.1:n.*237_*240del
NM_001318038.2:c.*237_*240del (A4GALT)	NP_001304967.1:n.*237_*240del
NM_017436.6:c.*237_*240del (A4GALT)	NP_059132.1:n.*237_*240del
XM_005261644.2:c.*237_*240del (A4GALT)	XP_005261701.1:n.*237_*240del
XM_005261646.4:c.*237_*240del (A4GALT)	XP_005261703.1:n.*237_*240del
XM_005261647.3:c.*237_*240del (A4GALT)	XP_005261704.1:n.*237_*240del
XM_005261648.4:c.*237_*240del (A4GALT)	XP_005261705.1:n.*237_*240del
XM_006724265.3:c.*237_*240del (A4GALT)	XP_006724328.1:n.*237_*240del
XM_006724266.3:c.*237_*240del (A4GALT)	XP_006724329.1:n.*237_*240del
XM_011530233.2:c.*237_*240del (A4GALT)	XP_011528535.1:n.*237_*240del
XM_017028831.1:c.*237_*240del (A4GALT)	XP_016884320.1:n.*237_*240del
NM_017436.7:c.*237_*240del (A4GALT) MANE Select	NP_059132.1:n.*237_*240del
NM_001318038.3:c.*237_*240del (A4GALT)	NP_001304967.1:n.*237_*240del