Canonical Allele Identifier: CA2800581017

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGACGGGAGGGAGG , CM000675.2:g.110169940_110169941insAAGGGAGGACGGGAGGGAGG	GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGACGGGAGGGAGG , CM000675.1:g.110822287_110822288insAAGGGAGGACGGGAGGGAGG	GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGACGGGAGGGAGG	NCBI36
NG_011544.2:g.142219_142220insGTCCTCCCTTCCTCCCTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-169_3743-168insGTCCTCCCTTCCTCCCTCCC MANE Select	ENSP00000364979.4:n.3743-169_3743-168insGTCCTCCCTTCCTCCCTCCC
ENST00000375820.8:c.3743-169_3743-168insGTCCTCCCTTCCTCCCTCCC	ENSP00000364979.4:n.3743-169_3743-168insGTCCTCCCTTCCTCCCTCCC
NM_001845.5:c.3743-169_3743-168insGTCCTCCCTTCCTCCCTCCC	NP_001836.3:n.3743-169_3743-168insGTCCTCCCTTCCTCCCTCCC
XM_011521048.1:c.3551-169_3551-168insGTCCTCCCTTCCTCCCTCCC	XP_011519350.1:n.3551-169_3551-168insGTCCTCCCTTCCTCCCTCCC
XM_011521048.2:c.3551-169_3551-168insGTCCTCCCTTCCTCCCTCCC	XP_011519350.1:n.3551-169_3551-168insGTCCTCCCTTCCTCCCTCCC
NM_001845.6:c.3743-169_3743-168insGTCCTCCCTTCCTCCCTCCC MANE Select	NP_001836.3:n.3743-169_3743-168insGTCCTCCCTTCCTCCCTCCC