Canonical Allele Identifier: CA2753572085

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993521_188993525del , CM000664.2:g.188993521_188993525del	GRCh38
NC_000002.11:g.189858247_189858251del , CM000664.1:g.189858247_189858251del	GRCh37
NC_000002.10:g.189566492_189566496del	NCBI36
NG_007404.1:g.24149_24153del , LRG_3:g.24149_24153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-517_1051-513del	ENSP00000415346.2:n.1051-517_1051-513del
ENST00000304636.9:c.1149+62_1149+66del MANE Select	ENSP00000304408.4:n.1149+62_1149+66del
ENST00000304636.7:c.1149+62_1149+66del	ENSP00000304408.3:n.1149+62_1149+66del
ENST00000317840.9:c.1149+62_1149+66del	ENSP00000315243.6:n.1149+62_1149+66del
ENST00000450867.1:c.149-517_149-513del
NM_000090.3:c.1149+62_1149+66del , LRG_3t1:c.1149+62_1149+66del	NP_000081.1:n.1149+62_1149+66del
NM_000090.4:c.1149+62_1149+66del MANE Select	NP_000081.2:n.1149+62_1149+66del