Canonical Allele Identifier: CA2662309038

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188999408-CTAGGTTTAAAAAATGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999410_188999426del , CM000664.2:g.188999410_188999426del	GRCh38
NC_000002.11:g.189864136_189864152del , CM000664.1:g.189864136_189864152del	GRCh37
NC_000002.10:g.189572381_189572397del	NCBI36
NG_007404.1:g.30038_30054del , LRG_3:g.30038_30054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2022+27_2023-44del	ENSP00000415346.2:n.2022+27_2023-44del
ENST00000304636.9:c.2121+27_2122-44del MANE Select	ENSP00000304408.4:n.2121+27_2122-44del
ENST00000304636.7:c.2121+27_2122-44del	ENSP00000304408.3:n.2121+27_2122-44del
ENST00000317840.9:c.2121+27_2122-44del	ENSP00000315243.6:n.2121+27_2122-44del
NM_000090.3:c.2121+27_2122-44del , LRG_3t1:c.2121+27_2122-44del	NP_000081.1:n.2121+27_2122-44del
NM_000090.4:c.2121+27_2122-44del MANE Select	NP_000081.2:n.2121+27_2122-44del