Canonical Allele Identifier: CA1315398000

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688227511
• gnomAD v4: 2-188993308-CTAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993310_188993313del , CM000664.2:g.188993310_188993313del	GRCh38
NC_000002.11:g.189858036_189858039del , CM000664.1:g.189858036_189858039del	GRCh37
NC_000002.10:g.189566281_189566284del	NCBI36
NG_007404.1:g.23938_23941del , LRG_3:g.23938_23941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1050+370_1050+373del	ENSP00000415346.2:n.1050+370_1050+373del
ENST00000304636.9:c.1051-51_1051-48del MANE Select	ENSP00000304408.4:n.1051-51_1051-48del
ENST00000304636.7:c.1051-51_1051-48del	ENSP00000304408.3:n.1051-51_1051-48del
ENST00000317840.9:c.1051-51_1051-48del	ENSP00000315243.6:n.1051-51_1051-48del
ENST00000450867.1:c.148+370_148+373del
NM_000090.3:c.1051-51_1051-48del , LRG_3t1:c.1051-51_1051-48del	NP_000081.1:n.1051-51_1051-48del
NM_000090.4:c.1051-51_1051-48del MANE Select	NP_000081.2:n.1051-51_1051-48del