Canonical Allele Identifier: CA2638704125
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50185399-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185405del , CM000679.2:g.50185405del GRCh38
NC_000017.10:g.48262766del , CM000679.1:g.48262766del GRCh37
NC_000017.9:g.45617765del NCBI36
NG_007400.1:g.21240del , LRG_1:g.21240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*102del MANE Select ENSP00000225964.6:n.*102del
ENST00000225964.9:c.*102del ENSP00000225964.5:n.*102del
NM_000088.3:c.*102del , LRG_1t1:c.*102del NP_000079.2:n.*102del
XM_005257058.3:c.*102del XP_005257115.2:n.*102del
XM_005257059.3:c.*102del XP_005257116.2:n.*102del
XM_011524341.1:c.*102del XP_011522643.1:n.*102del
XM_005257058.4:c.*102del XP_005257115.2:n.*102del
XM_005257059.4:c.*102del XP_005257116.2:n.*102del
NM_000088.4:c.*102del MANE Select NP_000079.2:n.*102del
Search 100 bp 5'
Search 100 bp 3'