Canonical Allele Identifier: CA612622910

Gene: COL4A1

Linked Data

• gnomAD v2: 13-110822231-C-CAACCCTTGAGACAGAAATCGAGGCAGGTCCAGGAAGGAAGGAAGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTG
• gnomAD v3: 13-110169884-C-CAACCCTTGAGACAGAAATCGAGGCAGGTCCAGGAAGGAAGGAAGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTG
• gnomAD v4: 13-110169884-C-CAACCCTTGAGACAGAAATCGAGGCAGGTCCAGGAAGGAAGGAAGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTG
• MyVariant Identifiers: chr13:g.110822231_110822232insAACCCTTGAGACAGAAATCGAGGCAGGTCCAGGAAGGAAGGAAGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTG (hg19) ; chr13:g.110169884_110169885insAACCCTTGAGACAGAAATCGAGGCAGGTCCAGGAAGGAAGGAAGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGAAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATCGAGGCAGGTCCAGGAAGGAAGGAAGGAGGGAGGGAGG , CM000675.2:g.110169940_110169941insAAGGGAGGAAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATCGAGGCAGGTCCAGGAAGGAAGGAAGGAGGGAGGGAGG	GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGAAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATCGAGGCAGGTCCAGGAAGGAAGGAAGGAGGGAGGGAGG , CM000675.1:g.110822287_110822288insAAGGGAGGAAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATCGAGGCAGGTCCAGGAAGGAAGGAAGGAGGGAGGGAGG	GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGAAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATCGAGGCAGGTCCAGGAAGGAAGGAAGGAGGGAGGGAGG	NCBI36
NG_011544.2:g.142265_142266insCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTGGACCTGCCTCGATTTCTGTCTCAAGGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-123_3743-122insCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTGGACCTGCCTCGATTTCTGTCTCAAGGGTT MANE Select	ENSP00000364979.4:n.3743-123_3743-122insCACATTGTCGGTCCAGTGTTT...
ENST00000375820.8:c.3743-123_3743-122insCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTGGACCTGCCTCGATTTCTGTCTCAAGGGTT	ENSP00000364979.4:n.3743-123_3743-122insCACATTGTCGGTCCAGTGTTT...
NM_001845.5:c.3743-123_3743-122insCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTGGACCTGCCTCGATTTCTGTCTCAAGGGTT	NP_001836.3:n.3743-123_3743-122insCACATTGTCGGTCCAGTGTTTTATCAG...
XM_011521048.1:c.3551-123_3551-122insCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTGGACCTGCCTCGATTTCTGTCTCAAGGGTT	XP_011519350.1:n.3551-123_3551-122insCACATTGTCGGTCCAGTGTTTTAT...
XM_011521048.2:c.3551-123_3551-122insCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTGGACCTGCCTCGATTTCTGTCTCAAGGGTT	XP_011519350.1:n.3551-123_3551-122insCACATTGTCGGTCCAGTGTTTTAT...
NM_001845.6:c.3743-123_3743-122insCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTGGACCTGCCTCGATTTCTGTCTCAAGGGTT MANE Select	NP_001836.3:n.3743-123_3743-122insCACATTGTCGGTCCAGTGTTTTATCAG...