Canonical Allele Identifier: CA2662288667

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993490-T-TGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993490_188993491insGAA , CM000664.2:g.188993490_188993491insGAA	GRCh38
NC_000002.11:g.189858216_189858217insGAA , CM000664.1:g.189858216_189858217insGAA	GRCh37
NC_000002.10:g.189566461_189566462insGAA	NCBI36
NG_007404.1:g.24118_24119insGAA , LRG_3:g.24118_24119insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-548_1051-547insGAA	ENSP00000415346.2:n.1051-548_1051-547insGAA
ENST00000304636.9:c.1149+31_1149+32insGAA MANE Select	ENSP00000304408.4:n.1149+31_1149+32insGAA
ENST00000304636.7:c.1149+31_1149+32insGAA	ENSP00000304408.3:n.1149+31_1149+32insGAA
ENST00000317840.9:c.1149+31_1149+32insGAA	ENSP00000315243.6:n.1149+31_1149+32insGAA
ENST00000450867.1:c.149-548_149-547insGAA
NM_000090.3:c.1149+31_1149+32insGAA , LRG_3t1:c.1149+31_1149+32insGAA	NP_000081.1:n.1149+31_1149+32insGAA
NM_000090.4:c.1149+31_1149+32insGAA MANE Select	NP_000081.2:n.1149+31_1149+32insGAA