Canonical Allele Identifier: CA2450717202

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681735_108681736delinsCA , CM000685.2:g.108681735_108681736delinsCA	GRCh38
NC_000023.10:g.107924965_107924966delinsCA , CM000685.1:g.107924965_107924966delinsCA	GRCh37
NC_000023.9:g.107811621_107811622delinsCA	NCBI36
NG_011977.1:g.246812_246813delinsCA
NG_011977.2:g.246812_246813delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4088-25_4088-24delinsCA MANE Select	ENSP00000331902.7:n.4088-25_4088-24delinsCA
ENST00000361603.7:c.4070-25_4070-24delinsCA	ENSP00000354505.2:n.4070-25_4070-24delinsCA
ENST00000510690.2:n.582-25_582-24delinsCA
ENST00000328300.10:c.4088-25_4088-24delinsCA	ENSP00000331902.6:n.4088-25_4088-24delinsCA
ENST00000361603.6:c.4070-25_4070-24delinsCA	ENSP00000354505.2:n.4070-25_4070-24delinsCA
ENST00000489230.1:n.491-25_491-24delinsCA
NM_000495.4:c.4070-25_4070-24delinsCA	NP_000486.1:n.4070-25_4070-24delinsCA
NM_033380.2:c.4088-25_4088-24delinsCA	NP_203699.1:n.4088-25_4088-24delinsCA
XM_005262070.2:c.4079-25_4079-24delinsCA	XP_005262127.1:n.4079-25_4079-24delinsCA
XM_006724616.2:c.4088-25_4088-24delinsCA	XP_006724679.1:n.4088-25_4088-24delinsCA
XM_011530849.1:c.3764-25_3764-24delinsCA	XP_011529151.1:n.3764-25_3764-24delinsCA
XM_011530851.1:c.1661-25_1661-24delinsCA	XP_011529153.1:n.1661-25_1661-24delinsCA
XM_011530849.2:c.4103-25_4103-24delinsCA	XP_011529151.2:n.4103-25_4103-24delinsCA
XM_017029259.2:c.4094-25_4094-24delinsCA	XP_016884748.1:n.4094-25_4094-24delinsCA
XM_017029260.1:c.4085-25_4085-24delinsCA	XP_016884749.1:n.4085-25_4085-24delinsCA
XM_017029263.2:c.2423-25_2423-24delinsCA	XP_016884752.1:n.2423-25_2423-24delinsCA
NM_000495.5:c.4070-25_4070-24delinsCA	NP_000486.1:n.4070-25_4070-24delinsCA
NM_033380.3:c.4088-25_4088-24delinsCA MANE Select	NP_203699.1:n.4088-25_4088-24delinsCA