Canonical Allele Identifier: CA2662308527

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188997502-A-AGTTTCATCATTGCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997502_188997503insGTTTCATCATTGCTT , CM000664.2:g.188997502_188997503insGTTTCATCATTGCTT	GRCh38
NC_000002.11:g.189862228_189862229insGTTTCATCATTGCTT , CM000664.1:g.189862228_189862229insGTTTCATCATTGCTT	GRCh37
NC_000002.10:g.189570473_189570474insGTTTCATCATTGCTT	NCBI36
NG_007404.1:g.28130_28131insGTTTCATCATTGCTT , LRG_3:g.28130_28131insGTTTCATCATTGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1770+113_1770+114insGTTTCATCATTGCTT	ENSP00000415346.2:n.1770+113_1770+114insGTTTCATCATTGCTT
ENST00000304636.9:c.1869+113_1869+114insGTTTCATCATTGCTT MANE Select	ENSP00000304408.4:n.1869+113_1869+114insGTTTCATCATTGCTT
ENST00000304636.7:c.1869+113_1869+114insGTTTCATCATTGCTT	ENSP00000304408.3:n.1869+113_1869+114insGTTTCATCATTGCTT
ENST00000317840.9:c.1869+113_1869+114insGTTTCATCATTGCTT	ENSP00000315243.6:n.1869+113_1869+114insGTTTCATCATTGCTT
NM_000090.3:c.1869+113_1869+114insGTTTCATCATTGCTT , LRG_3t1:c.1869+113_1869+114insGTTTCATCATTGCTT	NP_000081.1:n.1869+113_1869+114insGTTTCATCATTGCTT
NM_000090.4:c.1869+113_1869+114insGTTTCATCATTGCTT MANE Select	NP_000081.2:n.1869+113_1869+114insGTTTCATCATTGCTT