Canonical Allele Identifier: CA2450634658
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108440126_108440128delinsATG , CM000685.2:g.108440126_108440128delinsATG GRCh38
NC_000023.10:g.107683356_107683358delinsATG , CM000685.1:g.107683356_107683358delinsATG GRCh37
NC_000023.9:g.107570012_107570014delinsATG NCBI36
NG_011977.1:g.5203_5205delinsATG
NG_012059.2:g.4347_4349delinsCAT
NG_011977.2:g.5203_5205delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.1_3delinsATG MANE Select ENSP00000331902.7:p.Met1=
ENST00000361603.7:c.1_3delinsATG ENSP00000354505.2:p.Met1=
ENST00000642185.1:c.1_3delinsATG ENSP00000495101.1:p.Met1=
ENST00000328300.10:c.1_3delinsATG ENSP00000331902.6:p.Met1=
ENST00000361603.6:c.1_3delinsATG ENSP00000354505.2:p.Met1=
ENST00000470339.1:n.185_187delinsATG
ENST00000477429.1:n.283_285delinsATG
NM_000495.4:c.1_3delinsATG NP_000486.1:p.Met1=
NM_033380.2:c.1_3delinsATG NP_203699.1:p.Met1=
XM_005262070.2:c.1_3delinsATG XP_005262127.1:p.Met1=
XM_005262072.3:c.1_3delinsATG XP_005262129.1:p.Met1=
XM_006724616.2:c.1_3delinsATG XP_006724679.1:p.Met1=
XM_011530850.1:c.1_3delinsATG XP_011529152.1:p.Met1=
NM_000495.5:c.1_3delinsATG NP_000486.1:p.Met1=
NM_033380.3:c.1_3delinsATG MANE Select NP_203699.1:p.Met1=