Canonical Allele Identifier: CA2450721582

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694842_108694843delinsCA , CM000685.2:g.108694842_108694843delinsCA	GRCh38
NC_000023.10:g.107938072_107938073delinsCA , CM000685.1:g.107938072_107938073delinsCA	GRCh37
NC_000023.9:g.107824728_107824729delinsCA	NCBI36
NG_011977.1:g.259919_259920delinsCA
NG_011977.2:g.259919_259920delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4742_4743delinsCA MANE Select	ENSP00000331902.7:p.Ala1581=
ENST00000361603.7:c.4724_4725delinsCA	ENSP00000354505.2:p.Ala1575=
ENST00000510690.2:n.1236_1237delinsCA
ENST00000644079.1:n.1228_1229delinsCA
ENST00000328300.10:c.4742_4743delinsCA	ENSP00000331902.6:p.Ala1581=
ENST00000361603.6:c.4724_4725delinsCA	ENSP00000354505.2:p.Ala1575=
ENST00000504541.1:c.140_141delinsCA	ENSP00000424845.1:p.Ala47=
ENST00000515658.1:c.325-1455_325-1454delinsCA
NM_000495.4:c.4724_4725delinsCA	NP_000486.1:p.Ala1575=
NM_033380.2:c.4742_4743delinsCA	NP_203699.1:p.Ala1581=
XM_005262070.2:c.4733_4734delinsCA	XP_005262127.1:p.Ala1578=
XM_006724616.2:c.4742_4743delinsCA	XP_006724679.1:p.Ala1581=
XM_011530849.1:c.4418_4419delinsCA	XP_011529151.1:p.Ala1473=
XM_011530851.1:c.2315_2316delinsCA	XP_011529153.1:p.Ala772=
XM_011530849.2:c.4757_4758delinsCA	XP_011529151.2:p.Ala1586=
XM_017029259.2:c.4748_4749delinsCA	XP_016884748.1:p.Ala1583=
XM_017029260.1:c.4739_4740delinsCA	XP_016884749.1:p.Ala1580=
XM_017029263.2:c.3077_3078delinsCA	XP_016884752.1:p.Ala1026=
NM_000495.5:c.4724_4725delinsCA	NP_000486.1:p.Ala1575=
NM_033380.3:c.4742_4743delinsCA MANE Select	NP_203699.1:p.Ala1581=