Canonical Allele Identifier: CA2638680255
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50198642-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50198643dup , CM000679.2:g.50198643dup GRCh38
NC_000017.10:g.48276004dup , CM000679.1:g.48276004dup GRCh37
NC_000017.9:g.45631003dup NCBI36
NG_007400.1:g.7997dup , LRG_1:g.7997dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.472-139dup MANE Select ENSP00000225964.6:n.472-139dup
ENST00000225964.9:c.472-139dup ENSP00000225964.5:n.472-139dup
ENST00000495677.1:n.60dup
NM_000088.3:c.472-139dup , LRG_1t1:c.472-139dup NP_000079.2:n.472-139dup
XM_005257058.3:c.472-139dup XP_005257115.2:n.472-139dup
XM_005257059.3:c.472-139dup XP_005257116.2:n.472-139dup
XM_011524341.1:c.472-139dup XP_011522643.1:n.472-139dup
XM_005257058.4:c.472-139dup XP_005257115.2:n.472-139dup
XM_005257059.4:c.472-139dup XP_005257116.2:n.472-139dup
NM_000088.4:c.472-139dup MANE Select NP_000079.2:n.472-139dup
Search 100 bp 5'
Search 100 bp 3'