Canonical Allele Identifier: CA2662286878

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188989520-ATGTCAGAATCCCAGAAGAAAAAAAAATGTTATTCAAAATATTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188989525_188989568del , CM000664.2:g.188989525_188989568del	GRCh38
NC_000002.11:g.189854251_189854294del , CM000664.1:g.189854251_189854294del	GRCh37
NC_000002.10:g.189562496_189562539del	NCBI36
NG_007404.1:g.20153_20196del , LRG_3:g.20153_20196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.690+76_690+119del	ENSP00000415346.2:n.690+76_690+119del
ENST00000304636.9:c.690+76_690+119del MANE Select	ENSP00000304408.4:n.690+76_690+119del
ENST00000304636.7:c.690+76_690+119del	ENSP00000304408.3:n.690+76_690+119del
ENST00000317840.9:c.690+76_690+119del	ENSP00000315243.6:n.690+76_690+119del
NM_000090.3:c.690+76_690+119del , LRG_3t1:c.690+76_690+119del	NP_000081.1:n.690+76_690+119del
NM_000090.4:c.690+76_690+119del MANE Select	NP_000081.2:n.690+76_690+119del