Canonical Allele Identifier: CA1883373368

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822248_134822250delinsTCA , CM000671.2:g.134822248_134822250delinsTCA	GRCh38
NC_000009.11:g.137714094_137714096delinsTCA , CM000671.1:g.137714094_137714096delinsTCA	GRCh37
NC_000009.10:g.136853915_136853917delinsTCA	NCBI36
NG_008030.1:g.185443_185445delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+98_4608+100delinsTCA	ENSP00000360885.4:n.4608+98_4608+100delinsTCA
ENST00000371817.8:c.4608+98_4608+100delinsTCA MANE Select	ENSP00000360882.3:n.4608+98_4608+100delinsTCA
ENST00000371817.7:c.4608+98_4608+100delinsTCA	ENSP00000360882.3:n.4608+98_4608+100delinsTCA
ENST00000618395.4:c.4608+98_4608+100delinsTCA	ENSP00000481360.1:n.4608+98_4608+100delinsTCA
NM_000093.4:c.4608+98_4608+100delinsTCA	NP_000084.3:n.4608+98_4608+100delinsTCA
NM_001278074.1:c.4608+98_4608+100delinsTCA	NP_001265003.1:n.4608+98_4608+100delinsTCA
NR_103451.2:n.71-2041_71-2039delinsTGA
XR_929712.1:n.5010+98_5010+100delinsTCA
XR_929713.1:n.5010+98_5010+100delinsTCA
XM_017014266.2:c.4608+98_4608+100delinsTCA	XP_016869755.1:n.4608+98_4608+100delinsTCA
XR_001746183.1:n.5006+98_5006+100delinsTCA
NM_000093.5:c.4608+98_4608+100delinsTCA MANE Select	NP_000084.3:n.4608+98_4608+100delinsTCA