Canonical Allele Identifier: CA538441204

Gene: COL3A1

Linked Data

• dbSNP Id: rs1206584431
• gnomAD v2: 2-189857985-ACTC-A
• gnomAD v3: 2-188993259-ACTC-A
• gnomAD v4: 2-188993259-ACTC-A
• MyVariant Identifiers: chr2:g.189857986_189857988del (hg19) ; chr2:g.188993260_188993262del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993261_188993263del , CM000664.2:g.188993261_188993263del	GRCh38
NC_000002.11:g.189857987_189857989del , CM000664.1:g.189857987_189857989del	GRCh37
NC_000002.10:g.189566232_189566234del	NCBI36
NG_007404.1:g.23889_23891del , LRG_3:g.23889_23891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1050+321_1050+323del	ENSP00000415346.2:n.1050+321_1050+323del
ENST00000304636.9:c.1051-100_1051-98del MANE Select	ENSP00000304408.4:n.1051-100_1051-98del
ENST00000304636.7:c.1051-100_1051-98del	ENSP00000304408.3:n.1051-100_1051-98del
ENST00000317840.9:c.1051-100_1051-98del	ENSP00000315243.6:n.1051-100_1051-98del
ENST00000450867.1:c.148+321_148+323del
NM_000090.3:c.1051-100_1051-98del , LRG_3t1:c.1051-100_1051-98del	NP_000081.1:n.1051-100_1051-98del
NM_000090.4:c.1051-100_1051-98del MANE Select	NP_000081.2:n.1051-100_1051-98del