Canonical Allele Identifier: CA2662288671

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993493-TTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993494_188993496del , CM000664.2:g.188993494_188993496del	GRCh38
NC_000002.11:g.189858220_189858222del , CM000664.1:g.189858220_189858222del	GRCh37
NC_000002.10:g.189566465_189566467del	NCBI36
NG_007404.1:g.24122_24124del , LRG_3:g.24122_24124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-544_1051-542del	ENSP00000415346.2:n.1051-544_1051-542del
ENST00000304636.9:c.1149+35_1149+37del MANE Select	ENSP00000304408.4:n.1149+35_1149+37del
ENST00000304636.7:c.1149+35_1149+37del	ENSP00000304408.3:n.1149+35_1149+37del
ENST00000317840.9:c.1149+35_1149+37del	ENSP00000315243.6:n.1149+35_1149+37del
ENST00000450867.1:c.149-544_149-542del
NM_000090.3:c.1149+35_1149+37del , LRG_3t1:c.1149+35_1149+37del	NP_000081.1:n.1149+35_1149+37del
NM_000090.4:c.1149+35_1149+37del MANE Select	NP_000081.2:n.1149+35_1149+37del