Canonical Allele Identifier: CA538441225

Gene: COL3A1

Linked Data

• dbSNP Id: rs1363467221
• gnomAD v2: 2-189858435-AAT-A
• gnomAD v3: 2-188993709-AAT-A
• gnomAD v4: 2-188993709-AAT-A
• MyVariant Identifiers: chr2:g.189858436_189858437del (hg19) ; chr2:g.188993710_188993711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993711_188993712del , CM000664.2:g.188993711_188993712del	GRCh38
NC_000002.11:g.189858437_189858438del , CM000664.1:g.189858437_189858438del	GRCh37
NC_000002.10:g.189566682_189566683del	NCBI36
NG_007404.1:g.24339_24340del , LRG_3:g.24339_24340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-327_1051-326del	ENSP00000415346.2:n.1051-327_1051-326del
ENST00000304636.9:c.1149+252_1149+253del MANE Select	ENSP00000304408.4:n.1149+252_1149+253del
ENST00000304636.7:c.1149+252_1149+253del	ENSP00000304408.3:n.1149+252_1149+253del
ENST00000317840.9:c.1149+252_1149+253del	ENSP00000315243.6:n.1149+252_1149+253del
ENST00000450867.1:c.149-327_149-326del
NM_000090.3:c.1149+252_1149+253del , LRG_3t1:c.1149+252_1149+253del	NP_000081.1:n.1149+252_1149+253del
NM_000090.4:c.1149+252_1149+253del MANE Select	NP_000081.2:n.1149+252_1149+253del