Canonical Allele Identifier: CA2580065865

Gene: COL4A4

Linked Data

• ClinVar Variation Id: 1724537
• ClinVar RCV Id: RCV002309805

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227054635_227054637delinsTGTCTCTTATA , CM000664.2:g.227054635_227054637delinsTGTCTCTTATA	GRCh38
NC_000002.11:g.227919351_227919353delinsTGTCTCTTATA , CM000664.1:g.227919351_227919353delinsTGTCTCTTATA	GRCh37
NC_000002.10:g.227627595_227627597delinsTGTCTCTTATA	NCBI36
NG_011592.1:g.114923_114925delinsTATAAGAGACA , LRG_231:g.114923_114925delinsTATAAGAGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396625.5:c.2817_2819delinsTATAAGAGACA MANE Select	ENSP00000379866.3:p.Met940IlefsTer13
ENST00000396625.3:c.2817_2819delinsTATAAGAGACA	ENSP00000379866.3:p.Met940IlefsTer13
NM_000092.4:c.2817_2819delinsTATAAGAGACA , LRG_231t1:c.2817_2819delinsTATAAGAGACA	NP_000083.3:p.Met940IlefsTer13
XM_005246281.2:c.2817_2819delinsTATAAGAGACA	XP_005246338.1:p.Met940IlefsTer13
XM_005246282.2:c.2262_2264delinsTATAAGAGACA	XP_005246339.1:p.Met755IlefsTer13
XM_006712246.2:c.2817_2819delinsTATAAGAGACA	XP_006712309.1:p.Met940IlefsTer13
XM_006712249.2:c.2817_2819delinsTATAAGAGACA	XP_006712312.1:p.Met940IlefsTer13
XM_006712251.2:c.2817_2819delinsTATAAGAGACA	XP_006712314.1:p.Met940IlefsTer13
XM_006712252.2:c.2817_2819delinsTATAAGAGACA	XP_006712315.1:p.Met940IlefsTer13
XM_011510557.1:c.2817_2819delinsTATAAGAGACA	XP_011508859.1:p.Met940IlefsTer13
XM_011510558.1:c.2709_2711delinsTATAAGAGACA	XP_011508860.1:p.Met904IlefsTer13
XM_011510559.1:c.2817_2819delinsTATAAGAGACA	XP_011508861.1:p.Met940IlefsTer13
XM_011510560.1:c.2817_2819delinsTATAAGAGACA	XP_011508862.1:p.Met940IlefsTer13
XM_011510561.1:c.2817_2819delinsTATAAGAGACA	XP_011508863.1:p.Met940IlefsTer13
XM_011510562.1:c.2817_2819delinsTATAAGAGACA	XP_011508864.1:p.Met940IlefsTer13
XM_011510563.1:c.2817_2819delinsTATAAGAGACA	XP_011508865.1:p.Met940IlefsTer13
XM_011510564.1:c.2817_2819delinsTATAAGAGACA	XP_011508866.1:p.Met940IlefsTer13
XM_011510565.1:c.2817_2819delinsTATAAGAGACA	XP_011508867.1:p.Met940IlefsTer13
XM_011510566.1:c.2817_2819delinsTATAAGAGACA	XP_011508868.1:p.Met940IlefsTer13
XM_011510567.1:c.2817_2819delinsTATAAGAGACA	XP_011508869.1:p.Met940IlefsTer13
XM_011510568.1:c.2817_2819delinsTATAAGAGACA	XP_011508870.1:p.Met940IlefsTer13
XM_011510569.1:c.2817_2819delinsTATAAGAGACA	XP_011508871.1:p.Met940IlefsTer13
XM_011510570.1:c.2817_2819delinsTATAAGAGACA	XP_011508872.1:p.Met940IlefsTer13
XM_011510571.1:c.2817_2819delinsTATAAGAGACA	XP_011508873.1:p.Met940IlefsTer13
XM_011510572.1:c.1143_1145delinsTATAAGAGACA	XP_011508874.1:p.Met382IlefsTer13
XR_922837.1:n.3127_3129delinsTATAAGAGACA
XR_922838.1:n.3127_3129delinsTATAAGAGACA
XR_922839.1:n.3127_3129delinsTATAAGAGACA
XR_922840.1:n.3127_3129delinsTATAAGAGACA
XM_005246281.3:c.2817_2819delinsTATAAGAGACA	XP_005246338.1:p.Met940IlefsTer13
XM_005246282.3:c.2262_2264delinsTATAAGAGACA	XP_005246339.1:p.Met755IlefsTer13
XM_006712246.3:c.2817_2819delinsTATAAGAGACA	XP_006712309.1:p.Met940IlefsTer13
XM_011510557.2:c.2817_2819delinsTATAAGAGACA	XP_011508859.1:p.Met940IlefsTer13
XM_011510558.2:c.2709_2711delinsTATAAGAGACA	XP_011508860.1:p.Met904IlefsTer13
XM_011510559.2:c.2817_2819delinsTATAAGAGACA	XP_011508861.1:p.Met940IlefsTer13
XM_011510560.2:c.2817_2819delinsTATAAGAGACA	XP_011508862.1:p.Met940IlefsTer13
XM_011510561.2:c.2817_2819delinsTATAAGAGACA	XP_011508863.1:p.Met940IlefsTer13
XM_011510562.2:c.2817_2819delinsTATAAGAGACA	XP_011508864.1:p.Met940IlefsTer13
XM_011510565.2:c.2817_2819delinsTATAAGAGACA	XP_011508867.1:p.Met940IlefsTer13
XM_011510566.2:c.2817_2819delinsTATAAGAGACA	XP_011508868.1:p.Met940IlefsTer13
XM_011510567.2:c.2817_2819delinsTATAAGAGACA	XP_011508869.1:p.Met940IlefsTer13
XM_011510568.2:c.2817_2819delinsTATAAGAGACA	XP_011508870.1:p.Met940IlefsTer13
XM_011510569.2:c.2817_2819delinsTATAAGAGACA	XP_011508871.1:p.Met940IlefsTer13
XM_011510570.2:c.2817_2819delinsTATAAGAGACA	XP_011508872.1:p.Met940IlefsTer13
XM_011510572.3:c.1143_1145delinsTATAAGAGACA	XP_011508874.1:p.Met382IlefsTer13
XM_017003296.1:c.2817_2819delinsTATAAGAGACA	XP_016858785.1:p.Met940IlefsTer13
XM_017003297.1:c.2817_2819delinsTATAAGAGACA	XP_016858786.1:p.Met940IlefsTer13
XM_017003298.1:c.2817_2819delinsTATAAGAGACA	XP_016858787.1:p.Met940IlefsTer13
XM_017003299.1:c.2817_2819delinsTATAAGAGACA	XP_016858788.1:p.Met940IlefsTer13
XM_017003300.1:c.2817_2819delinsTATAAGAGACA	XP_016858789.1:p.Met940IlefsTer13
XR_001738602.1:n.3143_3145delinsTATAAGAGACA
XR_001738603.1:n.3143_3145delinsTATAAGAGACA
XR_001738604.1:n.3143_3145delinsTATAAGAGACA
XR_001738606.1:n.3143_3145delinsTATAAGAGACA
XR_001738607.1:n.3143_3145delinsTATAAGAGACA
XR_922837.2:n.3143_3145delinsTATAAGAGACA
NM_000092.5:c.2817_2819delinsTATAAGAGACA MANE Select	NP_000083.3:p.Met940IlefsTer13