Canonical Allele Identifier: CA2692454584

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134750756-T-TCTGGGAGCAGTGACGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750756_134750757insCTGGGAGCAGTGACGTG , CM000671.2:g.134750756_134750757insCTGGGAGCAGTGACGTG	GRCh38
NC_000009.11:g.137642602_137642603insCTGGGAGCAGTGACGTG , CM000671.1:g.137642602_137642603insCTGGGAGCAGTGACGTG	GRCh37
NC_000009.10:g.136782423_136782424insCTGGGAGCAGTGACGTG	NCBI36
NG_008030.1:g.113951_113952insCTGGGAGCAGTGACGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1570-34_1570-33insCTGGGAGCAGTGACGTG	ENSP00000360885.4:n.1570-34_1570-33insCTGGGAGCAGTGACGTG
ENST00000371817.8:c.1570-34_1570-33insCTGGGAGCAGTGACGTG MANE Select	ENSP00000360882.3:n.1570-34_1570-33insCTGGGAGCAGTGACGTG
ENST00000371817.7:c.1570-34_1570-33insCTGGGAGCAGTGACGTG	ENSP00000360882.3:n.1570-34_1570-33insCTGGGAGCAGTGACGTG
ENST00000618395.4:c.1570-34_1570-33insCTGGGAGCAGTGACGTG	ENSP00000481360.1:n.1570-34_1570-33insCTGGGAGCAGTGACGTG
NM_000093.4:c.1570-34_1570-33insCTGGGAGCAGTGACGTG	NP_000084.3:n.1570-34_1570-33insCTGGGAGCAGTGACGTG
NM_001278074.1:c.1570-34_1570-33insCTGGGAGCAGTGACGTG	NP_001265003.1:n.1570-34_1570-33insCTGGGAGCAGTGACGTG
XR_929712.1:n.1972-34_1972-33insCTGGGAGCAGTGACGTG
XR_929713.1:n.1972-34_1972-33insCTGGGAGCAGTGACGTG
XM_017014266.2:c.1570-34_1570-33insCTGGGAGCAGTGACGTG	XP_016869755.1:n.1570-34_1570-33insCTGGGAGCAGTGACGTG
XR_001746183.1:n.1968-34_1968-33insCTGGGAGCAGTGACGTG
NM_000093.5:c.1570-34_1570-33insCTGGGAGCAGTGACGTG MANE Select	NP_000084.3:n.1570-34_1570-33insCTGGGAGCAGTGACGTG