Canonical Allele Identifier: CA1883373344

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822242_134822244delinsGAA , CM000671.2:g.134822242_134822244delinsGAA	GRCh38
NC_000009.11:g.137714088_137714090delinsGAA , CM000671.1:g.137714088_137714090delinsGAA	GRCh37
NC_000009.10:g.136853909_136853911delinsGAA	NCBI36
NG_008030.1:g.185437_185439delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+92_4608+94delinsGAA	ENSP00000360885.4:n.4608+92_4608+94delinsGAA
ENST00000371817.8:c.4608+92_4608+94delinsGAA MANE Select	ENSP00000360882.3:n.4608+92_4608+94delinsGAA
ENST00000371817.7:c.4608+92_4608+94delinsGAA	ENSP00000360882.3:n.4608+92_4608+94delinsGAA
ENST00000618395.4:c.4608+92_4608+94delinsGAA	ENSP00000481360.1:n.4608+92_4608+94delinsGAA
NM_000093.4:c.4608+92_4608+94delinsGAA	NP_000084.3:n.4608+92_4608+94delinsGAA
NM_001278074.1:c.4608+92_4608+94delinsGAA	NP_001265003.1:n.4608+92_4608+94delinsGAA
NR_103451.2:n.71-2035_71-2033delinsTTC
XR_929712.1:n.5010+92_5010+94delinsGAA
XR_929713.1:n.5010+92_5010+94delinsGAA
XM_017014266.2:c.4608+92_4608+94delinsGAA	XP_016869755.1:n.4608+92_4608+94delinsGAA
XR_001746183.1:n.5006+92_5006+94delinsGAA
NM_000093.5:c.4608+92_4608+94delinsGAA MANE Select	NP_000084.3:n.4608+92_4608+94delinsGAA