Canonical Allele Identifier: CA2594850907

Gene: COL11A2

Linked Data

• gnomAD v3: 6-33164591-G-GCTCCAGGTGGGAGGGCCAAGAGCCCCAGATGCCAGCCATTC
• gnomAD v4: 6-33164591-G-GCTCCAGGTGGGAGGGCCAAGAGCCCCAGATGCCAGCCATTC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164592_33164593insTCCAGGTGGGAGGGCCAAGAGCCCCAGATGCCAGCCATTCC , CM000668.2:g.33164592_33164593insTCCAGGTGGGAGGGCCAAGAGCCCCAGATGCCAGCCATTCC	GRCh38
NC_000006.11:g.33132369_33132370insTCCAGGTGGGAGGGCCAAGAGCCCCAGATGCCAGCCATTCC , CM000668.1:g.33132369_33132370insTCCAGGTGGGAGGGCCAAGAGCCCCAGATGCCAGCCATTCC	GRCh37
NC_000006.10:g.33240347_33240348insTCCAGGTGGGAGGGCCAAGAGCCCCAGATGCCAGCCATTCC	NCBI36
NG_011589.1:g.32877_32878insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.670-119_670-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG
ENST00000341947.7:c.4864-119_4864-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG MANE Select	ENSP00000339915.2:n.4864-119_4864-118insGAATGGCTGGCATCTGGGGCT...
ENST00000341947.6:c.4864-119_4864-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	ENSP00000339915.2:n.4864-119_4864-118insGAATGGCTGGCATCTGGGGCT...
ENST00000361917.5:c.4543-119_4543-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	ENSP00000355123.1:n.4543-119_4543-118insGAATGGCTGGCATCTGGGGCT...
ENST00000374708.8:c.4606-119_4606-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	ENSP00000363840.4:n.4606-119_4606-118insGAATGGCTGGCATCTGGGGCT...
ENST00000477772.1:n.654-119_654-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG
NM_080679.2:c.4543-119_4543-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	NP_542410.2:n.4543-119_4543-118insGAATGGCTGGCATCTGGGGCTCTTGGC...
NM_080680.2:c.4864-119_4864-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	NP_542411.2:n.4864-119_4864-118insGAATGGCTGGCATCTGGGGCTCTTGGC...
NM_080681.2:c.4606-119_4606-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	NP_542412.2:n.4606-119_4606-118insGAATGGCTGGCATCTGGGGCTCTTGGC...
XM_011514298.1:c.4018-119_4018-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	XP_011512600.1:n.4018-119_4018-118insGAATGGCTGGCATCTGGGGCTCTT...
XM_011514299.1:c.4150-119_4150-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	XP_011512601.1:n.4150-119_4150-118insGAATGGCTGGCATCTGGGGCTCTT...
XM_011514300.1:c.3970-119_3970-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	XP_011512602.1:n.3970-119_3970-118insGAATGGCTGGCATCTGGGGCTCTT...
XM_011514301.1:c.3907-119_3907-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	XP_011512603.1:n.3907-119_3907-118insGAATGGCTGGCATCTGGGGCTCTT...
XM_011514302.1:c.3751-119_3751-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	XP_011512604.1:n.3751-119_3751-118insGAATGGCTGGCATCTGGGGCTCTT...
XM_011514299.2:c.4150-119_4150-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	XP_011512601.1:n.4150-119_4150-118insGAATGGCTGGCATCTGGGGCTCTT...
XM_011514300.2:c.3970-119_3970-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	XP_011512602.1:n.3970-119_3970-118insGAATGGCTGGCATCTGGGGCTCTT...
XM_011514302.2:c.3751-119_3751-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	XP_011512604.1:n.3751-119_3751-118insGAATGGCTGGCATCTGGGGCTCTT...
XM_017010250.1:c.4864-119_4864-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	XP_016865739.1:n.4864-119_4864-118insGAATGGCTGGCATCTGGGGCTCTT...
XM_017010251.2:c.3682-119_3682-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	XP_016865740.1:n.3682-119_3682-118insGAATGGCTGGCATCTGGGGCTCTT...
NM_080680.3:c.4864-119_4864-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG MANE Select	NP_542411.2:n.4864-119_4864-118insGAATGGCTGGCATCTGGGGCTCTTGGC...
NM_080681.3:c.4606-119_4606-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	NP_542412.2:n.4606-119_4606-118insGAATGGCTGGCATCTGGGGCTCTTGGC...
NM_080679.3:c.4543-119_4543-118insGAATGGCTGGCATCTGGGGCTCTTGGCCCTCCCACCTGGAG	NP_542410.2:n.4543-119_4543-118insGAATGGCTGGCATCTGGGGCTCTTGGC...