Canonical Allele Identifier: CA2844625019

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171551_33171552delinsTA , CM000668.2:g.33171551_33171552delinsTA	GRCh38
NC_000006.11:g.33139328_33139329delinsTA , CM000668.1:g.33139328_33139329delinsTA	GRCh37
NC_000006.10:g.33247306_33247307delinsTA	NCBI36
NG_011589.1:g.25917_25918delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3173_3174delinsTA MANE Select	ENSP00000339915.2:p.Pro1058Leu
ENST00000341947.6:c.3173_3174delinsTA	ENSP00000339915.2:p.Pro1058Leu
ENST00000361917.5:c.2852_2853delinsTA	ENSP00000355123.1:p.Pro951Leu
ENST00000374708.8:c.2915_2916delinsTA	ENSP00000363840.4:p.Pro972Leu
ENST00000477772.1:n.272+5457_272+5458delinsTA
NM_080679.2:c.2852_2853delinsTA	NP_542410.2:p.Pro951Leu
NM_080680.2:c.3173_3174delinsTA	NP_542411.2:p.Pro1058Leu
NM_080681.2:c.2915_2916delinsTA	NP_542412.2:p.Pro972Leu
XM_011514298.1:c.2327_2328delinsTA	XP_011512600.1:p.Pro776Leu
XM_011514299.1:c.2459_2460delinsTA	XP_011512601.1:p.Pro820Leu
XM_011514300.1:c.2279_2280delinsTA	XP_011512602.1:p.Pro760Leu
XM_011514301.1:c.2216_2217delinsTA	XP_011512603.1:p.Pro739Leu
XM_011514302.1:c.2060_2061delinsTA	XP_011512604.1:p.Pro687Leu
XM_011514299.2:c.2459_2460delinsTA	XP_011512601.1:p.Pro820Leu
XM_011514300.2:c.2279_2280delinsTA	XP_011512602.1:p.Pro760Leu
XM_011514302.2:c.2060_2061delinsTA	XP_011512604.1:p.Pro687Leu
XM_017010250.1:c.3173_3174delinsTA	XP_016865739.1:p.Pro1058Leu
XM_017010251.2:c.1991_1992delinsTA	XP_016865740.1:p.Pro664Leu
NM_080680.3:c.3173_3174delinsTA MANE Select	NP_542411.2:p.Pro1058Leu
NM_080681.3:c.2915_2916delinsTA	NP_542412.2:p.Pro972Leu
NM_080679.3:c.2852_2853delinsTA	NP_542410.2:p.Pro951Leu