Canonical Allele Identifier: CA2692445903

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134822194-A-AGGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822198_134822202dup , CM000671.2:g.134822198_134822202dup	GRCh38
NC_000009.11:g.137714044_137714048dup , CM000671.1:g.137714044_137714048dup	GRCh37
NC_000009.10:g.136853865_136853869dup	NCBI36
NG_008030.1:g.185393_185397dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+48_4608+52dup	ENSP00000360885.4:n.4608+48_4608+52dup
ENST00000371817.8:c.4608+48_4608+52dup MANE Select	ENSP00000360882.3:n.4608+48_4608+52dup
ENST00000371817.7:c.4608+48_4608+52dup	ENSP00000360882.3:n.4608+48_4608+52dup
ENST00000618395.4:c.4608+48_4608+52dup	ENSP00000481360.1:n.4608+48_4608+52dup
NM_000093.4:c.4608+48_4608+52dup	NP_000084.3:n.4608+48_4608+52dup
NM_001278074.1:c.4608+48_4608+52dup	NP_001265003.1:n.4608+48_4608+52dup
NR_103451.2:n.71-1990_71-1986dup
XR_929712.1:n.5010+48_5010+52dup
XR_929713.1:n.5010+48_5010+52dup
XM_017014266.2:c.4608+48_4608+52dup	XP_016869755.1:n.4608+48_4608+52dup
XR_001746183.1:n.5006+48_5006+52dup
NM_000093.5:c.4608+48_4608+52dup MANE Select	NP_000084.3:n.4608+48_4608+52dup