Canonical Allele Identifier: CA1883345258

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750415_134750417delinsTCA , CM000671.2:g.134750415_134750417delinsTCA	GRCh38
NC_000009.11:g.137642261_137642263delinsTCA , CM000671.1:g.137642261_137642263delinsTCA	GRCh37
NC_000009.10:g.136782082_136782084delinsTCA	NCBI36
NG_008030.1:g.113610_113612delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1495-127_1495-125delinsTCA	ENSP00000360885.4:n.1495-127_1495-125delinsTCA
ENST00000371817.8:c.1495-127_1495-125delinsTCA MANE Select	ENSP00000360882.3:n.1495-127_1495-125delinsTCA
ENST00000371817.7:c.1495-127_1495-125delinsTCA	ENSP00000360882.3:n.1495-127_1495-125delinsTCA
ENST00000618395.4:c.1495-127_1495-125delinsTCA	ENSP00000481360.1:n.1495-127_1495-125delinsTCA
NM_000093.4:c.1495-127_1495-125delinsTCA	NP_000084.3:n.1495-127_1495-125delinsTCA
NM_001278074.1:c.1495-127_1495-125delinsTCA	NP_001265003.1:n.1495-127_1495-125delinsTCA
XR_929712.1:n.1897-127_1897-125delinsTCA
XR_929713.1:n.1897-127_1897-125delinsTCA
XM_017014266.2:c.1495-127_1495-125delinsTCA	XP_016869755.1:n.1495-127_1495-125delinsTCA
XR_001746183.1:n.1893-127_1893-125delinsTCA
NM_000093.5:c.1495-127_1495-125delinsTCA MANE Select	NP_000084.3:n.1495-127_1495-125delinsTCA