Canonical Allele Identifier: CA2638677675
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196893del , CM000679.2:g.50196893del GRCh38
NC_000017.10:g.48274254del , CM000679.1:g.48274254del GRCh37
NC_000017.9:g.45629253del NCBI36
NG_007400.1:g.9749del , LRG_1:g.9749del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.804+119del MANE Select ENSP00000225964.6:n.804+119del
ENST00000225964.9:c.804+119del ENSP00000225964.5:n.804+119del
ENST00000495677.1:n.531+119del
NM_000088.3:c.804+119del , LRG_1t1:c.804+119del NP_000079.2:n.804+119del
XM_005257058.3:c.804+119del XP_005257115.2:n.804+119del
XM_005257059.3:c.804+119del XP_005257116.2:n.804+119del
XM_011524341.1:c.804+119del XP_011522643.1:n.804+119del
XM_005257058.4:c.804+119del XP_005257115.2:n.804+119del
XM_005257059.4:c.804+119del XP_005257116.2:n.804+119del
NM_000088.4:c.804+119del MANE Select NP_000079.2:n.804+119del