Canonical Allele Identifier: CA2663415054

Gene: COL4A3

Linked Data

• gnomAD v4: 2-227164800-CCGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164801_227164804del , CM000664.2:g.227164801_227164804del	GRCh38
NC_000002.11:g.228029517_228029520del , CM000664.1:g.228029517_228029520del	GRCh37
NC_000002.10:g.227737761_227737764del	NCBI36
NG_011591.1:g.5237_5240del , LRG_230:g.5237_5240del
NG_011592.1:g.4756_4759del , LRG_231:g.4756_4759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.75_78del MANE Select	ENSP00000379823.3:p.Ala26ProfsTer?
ENST00000396578.7:c.75_78del	ENSP00000379823.3:p.Ala26ProfsTer?
NM_000091.4:c.75_78del , LRG_230t1:c.75_78del	NP_000082.2:p.Ala26ProfsTer?
XM_005246276.2:c.75_78del	XP_005246333.1:p.Ala26ProfsTer?
XM_005246277.2:c.75_78del	XP_005246334.1:p.Ala26ProfsTer?
XM_005246280.2:c.75_78del	XP_005246337.1:p.Ala26ProfsTer?
XM_006712245.2:c.75_78del	XP_006712308.1:p.Ala26ProfsTer?
XM_011510555.1:c.75_78del	XP_011508857.1:p.Ala26ProfsTer?
XR_241280.2:n.213_216del
XM_005246277.3:c.75_78del	XP_005246334.1:p.Ala26ProfsTer?
XM_005246280.3:c.75_78del	XP_005246337.1:p.Ala26ProfsTer?
XM_006712245.3:c.75_78del	XP_006712308.1:p.Ala26ProfsTer?
XM_017003295.1:c.75_78del	XP_016858784.1:p.Ala26ProfsTer?
XR_001738601.1:n.213_216del
XR_241280.3:n.213_216del
NM_000091.5:c.75_78del MANE Select	NP_000082.2:p.Ala26ProfsTer?