Canonical Allele Identifier: CA658656725
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 456787
ClinVar RCV Id: RCV000548441
dbSNP Id: rs1555575068

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199277_50199278delinsGG , CM000679.2:g.50199277_50199278delinsGG GRCh38
NC_000017.10:g.48276638_48276639delinsGG , CM000679.1:g.48276638_48276639delinsGG GRCh37
NC_000017.9:g.45631637_45631638delinsGG NCBI36
NG_007400.1:g.7362_7363delinsCC , LRG_1:g.7362_7363delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.419_420delinsCC MANE Select ENSP00000225964.6:p.Leu140Pro
ENST00000225964.9:c.419_420delinsCC ENSP00000225964.5:p.Leu140Pro
NM_000088.3:c.419_420delinsCC , LRG_1t1:c.419_420delinsCC NP_000079.2:p.Leu140Pro
XM_005257058.3:c.419_420delinsCC XP_005257115.2:p.Leu140Pro
XM_005257059.3:c.419_420delinsCC XP_005257116.2:p.Leu140Pro
XM_011524341.1:c.419_420delinsCC XP_011522643.1:p.Leu140Pro
XM_005257058.4:c.419_420delinsCC XP_005257115.2:p.Leu140Pro
XM_005257059.4:c.419_420delinsCC XP_005257116.2:p.Leu140Pro
NM_000088.4:c.419_420delinsCC MANE Select NP_000079.2:p.Leu140Pro