Canonical Allele Identifier: CA1619890912

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33165248_33165250delinsCAT , CM000668.2:g.33165248_33165250delinsCAT	GRCh38
NC_000006.11:g.33133025_33133027delinsCAT , CM000668.1:g.33133025_33133027delinsCAT	GRCh37
NC_000006.10:g.33241003_33241005delinsCAT	NCBI36
NG_011589.1:g.32219_32221delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.557-286_557-284delinsATG
ENST00000341947.7:c.4751-286_4751-284delinsATG MANE Select	ENSP00000339915.2:n.4751-286_4751-284delinsATG
ENST00000341947.6:c.4751-286_4751-284delinsATG	ENSP00000339915.2:n.4751-286_4751-284delinsATG
ENST00000361917.5:c.4430-286_4430-284delinsATG	ENSP00000355123.1:n.4430-286_4430-284delinsATG
ENST00000374708.8:c.4493-286_4493-284delinsATG	ENSP00000363840.4:n.4493-286_4493-284delinsATG
ENST00000477772.1:n.541-286_541-284delinsATG
NM_080679.2:c.4430-286_4430-284delinsATG	NP_542410.2:n.4430-286_4430-284delinsATG
NM_080680.2:c.4751-286_4751-284delinsATG	NP_542411.2:n.4751-286_4751-284delinsATG
NM_080681.2:c.4493-286_4493-284delinsATG	NP_542412.2:n.4493-286_4493-284delinsATG
XM_011514298.1:c.3905-286_3905-284delinsATG	XP_011512600.1:n.3905-286_3905-284delinsATG
XM_011514299.1:c.4037-286_4037-284delinsATG	XP_011512601.1:n.4037-286_4037-284delinsATG
XM_011514300.1:c.3857-286_3857-284delinsATG	XP_011512602.1:n.3857-286_3857-284delinsATG
XM_011514301.1:c.3794-286_3794-284delinsATG	XP_011512603.1:n.3794-286_3794-284delinsATG
XM_011514302.1:c.3638-286_3638-284delinsATG	XP_011512604.1:n.3638-286_3638-284delinsATG
XM_011514299.2:c.4037-286_4037-284delinsATG	XP_011512601.1:n.4037-286_4037-284delinsATG
XM_011514300.2:c.3857-286_3857-284delinsATG	XP_011512602.1:n.3857-286_3857-284delinsATG
XM_011514302.2:c.3638-286_3638-284delinsATG	XP_011512604.1:n.3638-286_3638-284delinsATG
XM_017010250.1:c.4751-286_4751-284delinsATG	XP_016865739.1:n.4751-286_4751-284delinsATG
XM_017010251.2:c.3569-286_3569-284delinsATG	XP_016865740.1:n.3569-286_3569-284delinsATG
NM_080680.3:c.4751-286_4751-284delinsATG MANE Select	NP_542411.2:n.4751-286_4751-284delinsATG
NM_080681.3:c.4493-286_4493-284delinsATG	NP_542412.2:n.4493-286_4493-284delinsATG
NM_080679.3:c.4430-286_4430-284delinsATG	NP_542410.2:n.4430-286_4430-284delinsATG