Canonical Allele Identifier: CA2695235249

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694911_108694916delinsTT , CM000685.2:g.108694911_108694916delinsTT	GRCh38
NC_000023.10:g.107938141_107938146delinsTT , CM000685.1:g.107938141_107938146delinsTT	GRCh37
NC_000023.9:g.107824797_107824802delinsTT	NCBI36
NG_011977.1:g.259988_259993delinsTT
NG_011977.2:g.259988_259993delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4811_4816delinsTT MANE Select	ENSP00000331902.7:p.Ser1604PhefsTer2
ENST00000361603.7:c.4793_4798delinsTT	ENSP00000354505.2:p.Ser1598PhefsTer2
ENST00000510690.2:n.1305_1310delinsTT
ENST00000644079.1:n.1297_1302delinsTT
ENST00000328300.10:c.4811_4816delinsTT	ENSP00000331902.6:p.Ser1604PhefsTer2
ENST00000361603.6:c.4793_4798delinsTT	ENSP00000354505.2:p.Ser1598PhefsTer2
ENST00000504541.1:c.209_214delinsTT	ENSP00000424845.1:p.Ser70PhefsTer2
ENST00000515658.1:c.325-1386_325-1381delinsTT
NM_000495.4:c.4793_4798delinsTT	NP_000486.1:p.Ser1598PhefsTer2
NM_033380.2:c.4811_4816delinsTT	NP_203699.1:p.Ser1604PhefsTer2
XM_005262070.2:c.4802_4807delinsTT	XP_005262127.1:p.Ser1601PhefsTer2
XM_006724616.2:c.4811_4816delinsTT	XP_006724679.1:p.Ser1604PhefsTer2
XM_011530849.1:c.4487_4492delinsTT	XP_011529151.1:p.Ser1496PhefsTer2
XM_011530851.1:c.2384_2389delinsTT	XP_011529153.1:p.Ser795PhefsTer2
XM_011530849.2:c.4826_4831delinsTT	XP_011529151.2:p.Ser1609PhefsTer2
XM_017029259.2:c.4817_4822delinsTT	XP_016884748.1:p.Ser1606PhefsTer2
XM_017029260.1:c.4808_4813delinsTT	XP_016884749.1:p.Ser1603PhefsTer2
XM_017029263.2:c.3146_3151delinsTT	XP_016884752.1:p.Ser1049PhefsTer2
NM_000495.5:c.4793_4798delinsTT	NP_000486.1:p.Ser1598PhefsTer2
NM_033380.3:c.4811_4816delinsTT MANE Select	NP_203699.1:p.Ser1604PhefsTer2