Canonical Allele Identifier: CA2800581011

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169922_110169923insTGGAAGGAGGGAGGG , CM000675.2:g.110169922_110169923insTGGAAGGAGGGAGGG	GRCh38
NC_000013.10:g.110822269_110822270insTGGAAGGAGGGAGGG , CM000675.1:g.110822269_110822270insTGGAAGGAGGGAGGG	GRCh37
NC_000013.9:g.109620270_109620271insTGGAAGGAGGGAGGG	NCBI36
NG_011544.2:g.142227_142228insCCCTCCCTCCTTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-161_3743-160insCCCTCCCTCCTTCCA MANE Select	ENSP00000364979.4:n.3743-161_3743-160insCCCTCCCTCCTTCCA
ENST00000375820.8:c.3743-161_3743-160insCCCTCCCTCCTTCCA	ENSP00000364979.4:n.3743-161_3743-160insCCCTCCCTCCTTCCA
NM_001845.5:c.3743-161_3743-160insCCCTCCCTCCTTCCA	NP_001836.3:n.3743-161_3743-160insCCCTCCCTCCTTCCA
XM_011521048.1:c.3551-161_3551-160insCCCTCCCTCCTTCCA	XP_011519350.1:n.3551-161_3551-160insCCCTCCCTCCTTCCA
XM_011521048.2:c.3551-161_3551-160insCCCTCCCTCCTTCCA	XP_011519350.1:n.3551-161_3551-160insCCCTCCCTCCTTCCA
NM_001845.6:c.3743-161_3743-160insCCCTCCCTCCTTCCA MANE Select	NP_001836.3:n.3743-161_3743-160insCCCTCCCTCCTTCCA