Canonical Allele Identifier: CA1883373255

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822189_134822190delinsCA , CM000671.2:g.134822189_134822190delinsCA	GRCh38
NC_000009.11:g.137714035_137714036delinsCA , CM000671.1:g.137714035_137714036delinsCA	GRCh37
NC_000009.10:g.136853856_136853857delinsCA	NCBI36
NG_008030.1:g.185384_185385delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+39_4608+40delinsCA	ENSP00000360885.4:n.4608+39_4608+40delinsCA
ENST00000371817.8:c.4608+39_4608+40delinsCA MANE Select	ENSP00000360882.3:n.4608+39_4608+40delinsCA
ENST00000371817.7:c.4608+39_4608+40delinsCA	ENSP00000360882.3:n.4608+39_4608+40delinsCA
ENST00000618395.4:c.4608+39_4608+40delinsCA	ENSP00000481360.1:n.4608+39_4608+40delinsCA
NM_000093.4:c.4608+39_4608+40delinsCA	NP_000084.3:n.4608+39_4608+40delinsCA
NM_001278074.1:c.4608+39_4608+40delinsCA	NP_001265003.1:n.4608+39_4608+40delinsCA
NR_103451.2:n.71-1981_71-1980delinsTG
XR_929712.1:n.5010+39_5010+40delinsCA
XR_929713.1:n.5010+39_5010+40delinsCA
XM_017014266.2:c.4608+39_4608+40delinsCA	XP_016869755.1:n.4608+39_4608+40delinsCA
XR_001746183.1:n.5006+39_5006+40delinsCA
NM_000093.5:c.4608+39_4608+40delinsCA MANE Select	NP_000084.3:n.4608+39_4608+40delinsCA