Canonical Allele Identifier: CA2502938729

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33169701-TAGAGGATGGCAGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169704_33169717del , CM000668.2:g.33169704_33169717del	GRCh38
NC_000006.11:g.33137481_33137494del , CM000668.1:g.33137481_33137494del	GRCh37
NC_000006.10:g.33245459_33245472del	NCBI36
NG_011589.1:g.27754_27767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3690+116_3690+129del MANE Select	ENSP00000339915.2:n.3690+116_3690+129del
ENST00000341947.6:c.3690+116_3690+129del	ENSP00000339915.2:n.3690+116_3690+129del
ENST00000361917.5:c.3369+116_3369+129del	ENSP00000355123.1:n.3369+116_3369+129del
ENST00000374708.8:c.3432+116_3432+129del	ENSP00000363840.4:n.3432+116_3432+129del
ENST00000477772.1:n.273-3899_273-3886del
NM_080679.2:c.3369+116_3369+129del	NP_542410.2:n.3369+116_3369+129del
NM_080680.2:c.3690+116_3690+129del	NP_542411.2:n.3690+116_3690+129del
NM_080681.2:c.3432+116_3432+129del	NP_542412.2:n.3432+116_3432+129del
XM_011514298.1:c.2844+116_2844+129del	XP_011512600.1:n.2844+116_2844+129del
XM_011514299.1:c.2976+116_2976+129del	XP_011512601.1:n.2976+116_2976+129del
XM_011514300.1:c.2796+116_2796+129del	XP_011512602.1:n.2796+116_2796+129del
XM_011514301.1:c.2733+116_2733+129del	XP_011512603.1:n.2733+116_2733+129del
XM_011514302.1:c.2577+116_2577+129del	XP_011512604.1:n.2577+116_2577+129del
XM_011514299.2:c.2976+116_2976+129del	XP_011512601.1:n.2976+116_2976+129del
XM_011514300.2:c.2796+116_2796+129del	XP_011512602.1:n.2796+116_2796+129del
XM_011514302.2:c.2577+116_2577+129del	XP_011512604.1:n.2577+116_2577+129del
XM_017010250.1:c.3690+116_3690+129del	XP_016865739.1:n.3690+116_3690+129del
XM_017010251.2:c.2508+116_2508+129del	XP_016865740.1:n.2508+116_2508+129del
NM_080680.3:c.3690+116_3690+129del MANE Select	NP_542411.2:n.3690+116_3690+129del
NM_080681.3:c.3432+116_3432+129del	NP_542412.2:n.3432+116_3432+129del
NM_080679.3:c.3369+116_3369+129del	NP_542410.2:n.3369+116_3369+129del