Canonical Allele Identifier: CA695032328

Gene: COL4A1

Linked Data

• dbSNP Id: rs1376710594
• gnomAD v3: 13-110169937-G-GAGGGAGGGAGGA
• gnomAD v4: 13-110169937-G-GAGGGAGGGAGGA
• MyVariant Identifiers: chr13:g.110822284_110822285insAGGGAGGGAGGA (hg19) ; chr13:g.110169937_110169938insAGGGAGGGAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169946_110169947insGGAAGGGAGGGA , CM000675.2:g.110169946_110169947insGGAAGGGAGGGA	GRCh38
NC_000013.10:g.110822293_110822294insGGAAGGGAGGGA , CM000675.1:g.110822293_110822294insGGAAGGGAGGGA	GRCh37
NC_000013.9:g.109620294_109620295insGGAAGGGAGGGA	NCBI36
NG_011544.2:g.142212_142213insTCCTCCCTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-176_3743-175insTCCTCCCTCCCT MANE Select	ENSP00000364979.4:n.3743-176_3743-175insTCCTCCCTCCCT
ENST00000375820.8:c.3743-176_3743-175insTCCTCCCTCCCT	ENSP00000364979.4:n.3743-176_3743-175insTCCTCCCTCCCT
NM_001845.5:c.3743-176_3743-175insTCCTCCCTCCCT	NP_001836.3:n.3743-176_3743-175insTCCTCCCTCCCT
XM_011521048.1:c.3551-176_3551-175insTCCTCCCTCCCT	XP_011519350.1:n.3551-176_3551-175insTCCTCCCTCCCT
XM_011521048.2:c.3551-176_3551-175insTCCTCCCTCCCT	XP_011519350.1:n.3551-176_3551-175insTCCTCCCTCCCT
NM_001845.6:c.3743-176_3743-175insTCCTCCCTCCCT MANE Select	NP_001836.3:n.3743-176_3743-175insTCCTCCCTCCCT