Canonical Allele Identifier: CA2579674568

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157242del , CM000685.2:g.108157242del	GRCh38
NC_000023.10:g.107400472del , CM000685.1:g.107400472del	GRCh37
NC_000023.9:g.107287128del	NCBI36
NG_012059.2:g.287233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4831del MANE Select	ENSP00000334733.7:p.Glu1611ArgfsTer14
ENST00000334504.11:c.4831del	ENSP00000334733.7:p.Glu1611ArgfsTer14
ENST00000372216.8:c.4834del	ENSP00000361290.4:p.Glu1612ArgfsTer14
ENST00000394872.6:c.4882del	ENSP00000378340.3:p.Glu1628ArgfsTer14
ENST00000538570.5:c.4660del	ENSP00000445236.1:p.Glu1554ArgfsTer14
ENST00000545689.2:c.4795del	ENSP00000443707.2:p.Glu1599ArgfsTer14
ENST00000621266.4:c.4759del	ENSP00000482970.1:p.Glu1587ArgfsTer14
NM_001287758.1:c.4882del	NP_001274687.1:p.Glu1628ArgfsTer14
NM_001287759.1:c.4759del	NP_001274688.1:p.Glu1587ArgfsTer14
NM_001287760.1:c.4660del	NP_001274689.1:p.Glu1554ArgfsTer14
NM_001847.3:c.4834del	NP_001838.2:p.Glu1612ArgfsTer14
NM_033641.3:c.4831del	NP_378667.1:p.Glu1611ArgfsTer14
XM_006724617.2:c.4885del	XP_006724680.1:p.Glu1629ArgfsTer14
XM_011530852.1:c.4813del	XP_011529154.1:p.Glu1605ArgfsTer14
XM_011530853.1:c.4801del	XP_011529155.1:p.Glu1601ArgfsTer14
XM_006724617.3:c.4885del	XP_006724680.1:p.Glu1629ArgfsTer14
XM_011530852.2:c.4813del	XP_011529154.1:p.Glu1605ArgfsTer14
XM_011530853.3:c.4801del	XP_011529155.1:p.Glu1601ArgfsTer14
NM_001847.4:c.4834del	NP_001838.2:p.Glu1612ArgfsTer14
NM_033641.4:c.4831del MANE Select	NP_378667.1:p.Glu1611ArgfsTer14
NM_001287758.2:c.4882del	NP_001274687.1:p.Glu1628ArgfsTer14
NM_001287759.2:c.4759del	NP_001274688.1:p.Glu1587ArgfsTer14
NM_001287760.2:c.4660del	NP_001274689.1:p.Glu1554ArgfsTer14