Canonical Allele Identifier: CA960159911

Gene: COL4A1

Linked Data

• dbSNP Id: rs1555302275
• gnomAD v3: 13-110169929-G-GGGGGGGGGAGGAAGGGAGGA
• gnomAD v4: 13-110169929-G-GGGGGGGGGAGGAAGGGAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169929_110169930insGGGGGGGGAGGAAGGGAGGA , CM000675.2:g.110169929_110169930insGGGGGGGGAGGAAGGGAGGA	GRCh38
NC_000013.10:g.110822276_110822277insGGGGGGGGAGGAAGGGAGGA , CM000675.1:g.110822276_110822277insGGGGGGGGAGGAAGGGAGGA	GRCh37
NC_000013.9:g.109620277_109620278insGGGGGGGGAGGAAGGGAGGA	NCBI36
NG_011544.2:g.142220_142221insTCCTCCCTTCCTCCCCCCCC

Transcript Alleles

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