Canonical Allele Identifier: CA2800581018

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169939_110169940insCAAGGGAGGAATGGAGGGAG , CM000675.2:g.110169939_110169940insCAAGGGAGGAATGGAGGGAG	GRCh38
NC_000013.10:g.110822286_110822287insCAAGGGAGGAATGGAGGGAG , CM000675.1:g.110822286_110822287insCAAGGGAGGAATGGAGGGAG	GRCh37
NC_000013.9:g.109620287_109620288insCAAGGGAGGAATGGAGGGAG	NCBI36
NG_011544.2:g.142218_142219insATTCCTCCCTTGCTCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-170_3743-169insATTCCTCCCTTGCTCCCTCC MANE Select	ENSP00000364979.4:n.3743-170_3743-169insATTCCTCCCTTGCTCCCTCC
ENST00000375820.8:c.3743-170_3743-169insATTCCTCCCTTGCTCCCTCC	ENSP00000364979.4:n.3743-170_3743-169insATTCCTCCCTTGCTCCCTCC
NM_001845.5:c.3743-170_3743-169insATTCCTCCCTTGCTCCCTCC	NP_001836.3:n.3743-170_3743-169insATTCCTCCCTTGCTCCCTCC
XM_011521048.1:c.3551-170_3551-169insATTCCTCCCTTGCTCCCTCC	XP_011519350.1:n.3551-170_3551-169insATTCCTCCCTTGCTCCCTCC
XM_011521048.2:c.3551-170_3551-169insATTCCTCCCTTGCTCCCTCC	XP_011519350.1:n.3551-170_3551-169insATTCCTCCCTTGCTCCCTCC
NM_001845.6:c.3743-170_3743-169insATTCCTCCCTTGCTCCCTCC MANE Select	NP_001836.3:n.3743-170_3743-169insATTCCTCCCTTGCTCCCTCC