Canonical Allele Identifier: CA2678226407

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164949-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164950del , CM000668.2:g.33164950del	GRCh38
NC_000006.11:g.33132727del , CM000668.1:g.33132727del	GRCh37
NC_000006.10:g.33240705del	NCBI36
NG_011589.1:g.32519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.571del
ENST00000341947.7:c.4765del MANE Select	ENSP00000339915.2:p.Asp1589ThrfsTer25
ENST00000341947.6:c.4765del	ENSP00000339915.2:p.Asp1589ThrfsTer25
ENST00000361917.5:c.4444del	ENSP00000355123.1:p.Asp1482ThrfsTer25
ENST00000374708.8:c.4507del	ENSP00000363840.4:p.Asp1503ThrfsTer25
ENST00000477772.1:n.555del
NM_080679.2:c.4444del	NP_542410.2:p.Asp1482ThrfsTer25
NM_080680.2:c.4765del	NP_542411.2:p.Asp1589ThrfsTer25
NM_080681.2:c.4507del	NP_542412.2:p.Asp1503ThrfsTer25
XM_011514298.1:c.3919del	XP_011512600.1:p.Asp1307ThrfsTer25
XM_011514299.1:c.4051del	XP_011512601.1:p.Asp1351ThrfsTer25
XM_011514300.1:c.3871del	XP_011512602.1:p.Asp1291ThrfsTer25
XM_011514301.1:c.3808del	XP_011512603.1:p.Asp1270ThrfsTer25
XM_011514302.1:c.3652del	XP_011512604.1:p.Asp1218ThrfsTer25
XM_011514299.2:c.4051del	XP_011512601.1:p.Asp1351ThrfsTer25
XM_011514300.2:c.3871del	XP_011512602.1:p.Asp1291ThrfsTer25
XM_011514302.2:c.3652del	XP_011512604.1:p.Asp1218ThrfsTer25
XM_017010250.1:c.4765del	XP_016865739.1:p.Asp1589ThrfsTer25
XM_017010251.2:c.3583del	XP_016865740.1:p.Asp1195ThrfsTer25
NM_080680.3:c.4765del MANE Select	NP_542411.2:p.Asp1589ThrfsTer25
NM_080681.3:c.4507del	NP_542412.2:p.Asp1503ThrfsTer25
NM_080679.3:c.4444del	NP_542410.2:p.Asp1482ThrfsTer25