Canonical Allele Identifier: CA2523859852

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169933_110169934insGGAGGAAGGGAGGA , CM000675.2:g.110169933_110169934insGGAGGAAGGGAGGA	GRCh38
NC_000013.10:g.110822280_110822281insGGAGGAAGGGAGGA , CM000675.1:g.110822280_110822281insGGAGGAAGGGAGGA	GRCh37
NC_000013.9:g.109620281_109620282insGGAGGAAGGGAGGA	NCBI36
NG_011544.2:g.142216_142217insTCCTCCCTTCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-172_3743-171insTCCTCCCTTCCTCC MANE Select	ENSP00000364979.4:n.3743-172_3743-171insTCCTCCCTTCCTCC
ENST00000375820.8:c.3743-172_3743-171insTCCTCCCTTCCTCC	ENSP00000364979.4:n.3743-172_3743-171insTCCTCCCTTCCTCC
NM_001845.5:c.3743-172_3743-171insTCCTCCCTTCCTCC	NP_001836.3:n.3743-172_3743-171insTCCTCCCTTCCTCC
XM_011521048.1:c.3551-172_3551-171insTCCTCCCTTCCTCC	XP_011519350.1:n.3551-172_3551-171insTCCTCCCTTCCTCC
XM_011521048.2:c.3551-172_3551-171insTCCTCCCTTCCTCC	XP_011519350.1:n.3551-172_3551-171insTCCTCCCTTCCTCC
NM_001845.6:c.3743-172_3743-171insTCCTCCCTTCCTCC MANE Select	NP_001836.3:n.3743-172_3743-171insTCCTCCCTTCCTCC