Canonical Allele Identifier: CA2809757651

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188613_50188614insCACGCTCGCCTTGTTCCCCCTTCGTTTTGCTCCACTTGTA , CM000679.2:g.50188613_50188614insCACGCTCGCCTTGTTCCCCCTTCGTTTTGCTCCACTTGTA	GRCh38
NC_000017.10:g.48265974_48265975insCACGCTCGCCTTGTTCCCCCTTCGTTTTGCTCCACTTGTA , CM000679.1:g.48265974_48265975insCACGCTCGCCTTGTTCCCCCTTCGTTTTGCTCCACTTGTA	GRCh37
NC_000017.9:g.45620973_45620974insCACGCTCGCCTTGTTCCCCCTTCGTTTTGCTCCACTTGTA	NCBI36
NG_007400.1:g.18026_18027insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG , LRG_1:g.18026_18027insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3123_3124insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG MANE Select	ENSP00000225964.6:p.Ala1042TyrfsTer37
ENST00000225964.9:c.3123_3124insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG	ENSP00000225964.5:p.Ala1042TyrfsTer37
ENST00000511732.1:n.67_68insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG
NM_000088.3:c.3123_3124insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG , LRG_1t1:c.3123_3124insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG	NP_000079.2:p.Ala1042TyrfsTer37
XM_005257058.3:c.2853_2854insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG	XP_005257115.2:p.Ala952TyrfsTer37
XM_005257059.3:c.2205_2206insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG	XP_005257116.2:p.Ala736TyrfsTer37
XM_011524341.1:c.2925_2926insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG	XP_011522643.1:p.Ala976TyrfsTer37
XM_005257058.4:c.2853_2854insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG	XP_005257115.2:p.Ala952TyrfsTer37
XM_005257059.4:c.2205_2206insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG	XP_005257116.2:p.Ala736TyrfsTer37
NM_000088.4:c.3123_3124insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG MANE Select	NP_000079.2:p.Ala1042TyrfsTer37