Canonical Allele Identifier: CA1883393132

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835314_134835332delinsGGCCCCGGACCAGACTCTC , CM000671.2:g.134835314_134835332delinsGGCCCCGGACCAGACTCTC	GRCh38
NC_000009.11:g.137727160_137727178delinsGGCCCCGGACCAGACTCTC , CM000671.1:g.137727160_137727178delinsGGCCCCGGACCAGACTCTC	GRCh37
NC_000009.10:g.136866981_136866999delinsGGCCCCGGACCAGACTCTC	NCBI36
NG_008030.1:g.198509_198527delinsGGCCCCGGACCAGACTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370+110_5370+128delinsGGCCCCGGACCAGACTCTC	ENSP00000360885.4:n.5370+110_5370+128delinsGGCCCCGGACCAGACTCT...
ENST00000371817.8:c.5370+110_5370+128delinsGGCCCCGGACCAGACTCTC MANE Select	ENSP00000360882.3:n.5370+110_5370+128delinsGGCCCCGGACCAGACTCT...
ENST00000371817.7:c.5370+110_5370+128delinsGGCCCCGGACCAGACTCTC	ENSP00000360882.3:n.5370+110_5370+128delinsGGCCCCGGACCAGACTCT...
ENST00000618395.4:c.5370+110_5370+128delinsGGCCCCGGACCAGACTCTC	ENSP00000481360.1:n.5370+110_5370+128delinsGGCCCCGGACCAGACTCT...
NM_000093.4:c.5370+110_5370+128delinsGGCCCCGGACCAGACTCTC	NP_000084.3:n.5370+110_5370+128delinsGGCCCCGGACCAGACTCTC
NM_001278074.1:c.5370+110_5370+128delinsGGCCCCGGACCAGACTCTC	NP_001265003.1:n.5370+110_5370+128delinsGGCCCCGGACCAGACTCTC
NR_103451.2:n.71-15123_71-15105delinsGAGAGTCTGGTCCGGGGCC
NM_000093.5:c.5370+110_5370+128delinsGGCCCCGGACCAGACTCTC MANE Select	NP_000084.3:n.5370+110_5370+128delinsGGCCCCGGACCAGACTCTC