Canonical Allele Identifier: CA891843696

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938084_107938085insT (hg19) ; chrX:g.108694854_108694855insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694854_108694855insT , CM000685.2:g.108694854_108694855insT	GRCh38
NC_000023.10:g.107938084_107938085insT , CM000685.1:g.107938084_107938085insT	GRCh37
NC_000023.9:g.107824740_107824741insT	NCBI36
NG_011977.1:g.259931_259932insT
NG_011977.2:g.259931_259932insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4754_4755insT MANE Select	ENSP00000331902.7:p.Gln1585HisfsTer?
ENST00000361603.7:c.4736_4737insT	ENSP00000354505.2:p.Gln1579HisfsTer?
ENST00000510690.2:n.1248_1249insT
ENST00000644079.1:n.1240_1241insT
ENST00000328300.10:c.4754_4755insT	ENSP00000331902.6:p.Gln1585HisfsTer?
ENST00000361603.6:c.4736_4737insT	ENSP00000354505.2:p.Gln1579HisfsTer?
ENST00000504541.1:c.152_153insT	ENSP00000424845.1:p.Gln51HisfsTer31
ENST00000515658.1:c.325-1443_325-1442insT
NM_000495.4:c.4736_4737insT	NP_000486.1:p.Gln1579HisfsTer?
NM_033380.2:c.4754_4755insT	NP_203699.1:p.Gln1585HisfsTer?
XM_005262070.2:c.4745_4746insT	XP_005262127.1:p.Gln1582HisfsTer?
XM_006724616.2:c.4754_4755insT	XP_006724679.1:p.Gln1585HisfsTer?
XM_011530849.1:c.4430_4431insT	XP_011529151.1:p.Gln1477HisfsTer?
XM_011530851.1:c.2327_2328insT	XP_011529153.1:p.Gln776HisfsTer?
XM_011530849.2:c.4769_4770insT	XP_011529151.2:p.Gln1590HisfsTer?
XM_017029259.2:c.4760_4761insT	XP_016884748.1:p.Gln1587HisfsTer?
XM_017029260.1:c.4751_4752insT	XP_016884749.1:p.Gln1584HisfsTer?
XM_017029263.2:c.3089_3090insT	XP_016884752.1:p.Gln1030HisfsTer?
NM_000495.5:c.4736_4737insT	NP_000486.1:p.Gln1579HisfsTer?
NM_033380.3:c.4754_4755insT MANE Select	NP_203699.1:p.Gln1585HisfsTer?