Canonical Allele Identifier: CA1619890833
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33165137_33165138delinsCA , CM000668.2:g.33165137_33165138delinsCA GRCh38
NC_000006.11:g.33132914_33132915delinsCA , CM000668.1:g.33132914_33132915delinsCA GRCh37
NC_000006.10:g.33240892_33240893delinsCA NCBI36
NG_011589.1:g.32331_32332delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.557-174_557-173delinsTG
ENST00000341947.7:c.4751-174_4751-173delinsTG MANE Select ENSP00000339915.2:n.4751-174_4751-173delinsTG
ENST00000341947.6:c.4751-174_4751-173delinsTG ENSP00000339915.2:n.4751-174_4751-173delinsTG
ENST00000361917.5:c.4430-174_4430-173delinsTG ENSP00000355123.1:n.4430-174_4430-173delinsTG
ENST00000374708.8:c.4493-174_4493-173delinsTG ENSP00000363840.4:n.4493-174_4493-173delinsTG
ENST00000477772.1:n.541-174_541-173delinsTG
NM_080679.2:c.4430-174_4430-173delinsTG NP_542410.2:n.4430-174_4430-173delinsTG
NM_080680.2:c.4751-174_4751-173delinsTG NP_542411.2:n.4751-174_4751-173delinsTG
NM_080681.2:c.4493-174_4493-173delinsTG NP_542412.2:n.4493-174_4493-173delinsTG
XM_011514298.1:c.3905-174_3905-173delinsTG XP_011512600.1:n.3905-174_3905-173delinsTG
XM_011514299.1:c.4037-174_4037-173delinsTG XP_011512601.1:n.4037-174_4037-173delinsTG
XM_011514300.1:c.3857-174_3857-173delinsTG XP_011512602.1:n.3857-174_3857-173delinsTG
XM_011514301.1:c.3794-174_3794-173delinsTG XP_011512603.1:n.3794-174_3794-173delinsTG
XM_011514302.1:c.3638-174_3638-173delinsTG XP_011512604.1:n.3638-174_3638-173delinsTG
XM_011514299.2:c.4037-174_4037-173delinsTG XP_011512601.1:n.4037-174_4037-173delinsTG
XM_011514300.2:c.3857-174_3857-173delinsTG XP_011512602.1:n.3857-174_3857-173delinsTG
XM_011514302.2:c.3638-174_3638-173delinsTG XP_011512604.1:n.3638-174_3638-173delinsTG
XM_017010250.1:c.4751-174_4751-173delinsTG XP_016865739.1:n.4751-174_4751-173delinsTG
XM_017010251.2:c.3569-174_3569-173delinsTG XP_016865740.1:n.3569-174_3569-173delinsTG
NM_080680.3:c.4751-174_4751-173delinsTG MANE Select NP_542411.2:n.4751-174_4751-173delinsTG
NM_080681.3:c.4493-174_4493-173delinsTG NP_542412.2:n.4493-174_4493-173delinsTG
NM_080679.3:c.4430-174_4430-173delinsTG NP_542410.2:n.4430-174_4430-173delinsTG