Canonical Allele Identifier: CA201086011
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs978023288

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750420_134750423dup , CM000671.2:g.134750420_134750423dup GRCh38
NC_000009.11:g.137642266_137642269dup , CM000671.1:g.137642266_137642269dup GRCh37
NC_000009.10:g.136782087_136782090dup NCBI36
NG_008030.1:g.113615_113618dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1495-122_1495-119dup ENSP00000360885.4:n.1495-122_1495-119dup
ENST00000371817.8:c.1495-122_1495-119dup MANE Select ENSP00000360882.3:n.1495-122_1495-119dup
ENST00000371817.7:c.1495-122_1495-119dup ENSP00000360882.3:n.1495-122_1495-119dup
ENST00000618395.4:c.1495-122_1495-119dup ENSP00000481360.1:n.1495-122_1495-119dup
NM_000093.4:c.1495-122_1495-119dup NP_000084.3:n.1495-122_1495-119dup
NM_001278074.1:c.1495-122_1495-119dup NP_001265003.1:n.1495-122_1495-119dup
XR_929712.1:n.1897-122_1897-119dup
XR_929713.1:n.1897-122_1897-119dup
XM_017014266.2:c.1495-122_1495-119dup XP_016869755.1:n.1495-122_1495-119dup
XR_001746183.1:n.1893-122_1893-119dup
NM_000093.5:c.1495-122_1495-119dup MANE Select NP_000084.3:n.1495-122_1495-119dup