Canonical Allele Identifier: CA960159920

Gene: COL4A1

Linked Data

• gnomAD v3: 13-110169929-G-GAGAGATGGAGGAAGGGAGGA
• gnomAD v4: 13-110169929-G-GAGAGATGGAGGAAGGGAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169931_110169932insAGATGGAGGAAGGGAGGAAG , CM000675.2:g.110169931_110169932insAGATGGAGGAAGGGAGGAAG	GRCh38
NC_000013.10:g.110822278_110822279insAGATGGAGGAAGGGAGGAAG , CM000675.1:g.110822278_110822279insAGATGGAGGAAGGGAGGAAG	GRCh37
NC_000013.9:g.109620279_109620280insAGATGGAGGAAGGGAGGAAG	NCBI36
NG_011544.2:g.142220_142221insTCCTCCCTTCCTCCATCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-168_3743-167insTCCTCCCTTCCTCCATCTCT MANE Select	ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTTCCTCCATCTCT
ENST00000375820.8:c.3743-168_3743-167insTCCTCCCTTCCTCCATCTCT	ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTTCCTCCATCTCT
NM_001845.5:c.3743-168_3743-167insTCCTCCCTTCCTCCATCTCT	NP_001836.3:n.3743-168_3743-167insTCCTCCCTTCCTCCATCTCT
XM_011521048.1:c.3551-168_3551-167insTCCTCCCTTCCTCCATCTCT	XP_011519350.1:n.3551-168_3551-167insTCCTCCCTTCCTCCATCTCT
XM_011521048.2:c.3551-168_3551-167insTCCTCCCTTCCTCCATCTCT	XP_011519350.1:n.3551-168_3551-167insTCCTCCCTTCCTCCATCTCT
NM_001845.6:c.3743-168_3743-167insTCCTCCCTTCCTCCATCTCT MANE Select	NP_001836.3:n.3743-168_3743-167insTCCTCCCTTCCTCCATCTCT