Canonical Allele Identifier: CA2578581100

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164776del , CM000668.2:g.33164776del	GRCh38
NC_000006.11:g.33132553del , CM000668.1:g.33132553del	GRCh37
NC_000006.10:g.33240531del	NCBI36
NG_011589.1:g.32694del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.669+77del
ENST00000341947.7:c.4863+77del MANE Select	ENSP00000339915.2:n.4863+77del
ENST00000341947.6:c.4863+77del	ENSP00000339915.2:n.4863+77del
ENST00000361917.5:c.4542+77del	ENSP00000355123.1:n.4542+77del
ENST00000374708.8:c.4605+77del	ENSP00000363840.4:n.4605+77del
ENST00000477772.1:n.653+77del
NM_080679.2:c.4542+77del	NP_542410.2:n.4542+77del
NM_080680.2:c.4863+77del	NP_542411.2:n.4863+77del
NM_080681.2:c.4605+77del	NP_542412.2:n.4605+77del
XM_011514298.1:c.4017+77del	XP_011512600.1:n.4017+77del
XM_011514299.1:c.4149+77del	XP_011512601.1:n.4149+77del
XM_011514300.1:c.3969+77del	XP_011512602.1:n.3969+77del
XM_011514301.1:c.3906+77del	XP_011512603.1:n.3906+77del
XM_011514302.1:c.3750+77del	XP_011512604.1:n.3750+77del
XM_011514299.2:c.4149+77del	XP_011512601.1:n.4149+77del
XM_011514300.2:c.3969+77del	XP_011512602.1:n.3969+77del
XM_011514302.2:c.3750+77del	XP_011512604.1:n.3750+77del
XM_017010250.1:c.4863+77del	XP_016865739.1:n.4863+77del
XM_017010251.2:c.3681+77del	XP_016865740.1:n.3681+77del
NM_080680.3:c.4863+77del MANE Select	NP_542411.2:n.4863+77del
NM_080681.3:c.4605+77del	NP_542412.2:n.4605+77del
NM_080679.3:c.4542+77del	NP_542410.2:n.4542+77del