Canonical Allele Identifier: CA2800581015

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169933_110169934insGGGAGGAAGGGAGGAAGGG , CM000675.2:g.110169933_110169934insGGGAGGAAGGGAGGAAGGG	GRCh38
NC_000013.10:g.110822280_110822281insGGGAGGAAGGGAGGAAGGG , CM000675.1:g.110822280_110822281insGGGAGGAAGGGAGGAAGGG	GRCh37
NC_000013.9:g.109620281_109620282insGGGAGGAAGGGAGGAAGGG	NCBI36
NG_011544.2:g.142220_142221insTCCTCCCTTCCTCCCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-168_3743-167insTCCTCCCTTCCTCCCCCCT MANE Select	ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTTCCTCCCCCCT
ENST00000375820.8:c.3743-168_3743-167insTCCTCCCTTCCTCCCCCCT	ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTTCCTCCCCCCT
NM_001845.5:c.3743-168_3743-167insTCCTCCCTTCCTCCCCCCT	NP_001836.3:n.3743-168_3743-167insTCCTCCCTTCCTCCCCCCT
XM_011521048.1:c.3551-168_3551-167insTCCTCCCTTCCTCCCCCCT	XP_011519350.1:n.3551-168_3551-167insTCCTCCCTTCCTCCCCCCT
XM_011521048.2:c.3551-168_3551-167insTCCTCCCTTCCTCCCCCCT	XP_011519350.1:n.3551-168_3551-167insTCCTCCCTTCCTCCCCCCT
NM_001845.6:c.3743-168_3743-167insTCCTCCCTTCCTCCCCCCT MANE Select	NP_001836.3:n.3743-168_3743-167insTCCTCCCTTCCTCCCCCCT