Canonical Allele Identifier: CA10067498

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs777341239
• ExAC: 21:46924431 CCCAGGCCCCCCAGGCCCA / C
• gnomAD v2: 21-46924431-CCCAGGCCCCCCAGGCCCA-C
• gnomAD v4: 21-45504517-CCCAGGCCCCCCAGGCCCA-C
• MyVariant Identifiers: chr21:g.46924432_46924449del (hg19) ; chr21:g.45504518_45504535del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504519_45504536del , CM000683.2:g.45504519_45504536del	GRCh38
NC_000021.8:g.46924433_46924450del , CM000683.1:g.46924433_46924450del	GRCh37
NC_000021.7:g.45748861_45748878del	NCBI36
NG_028278.2:g.63609_63626del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3371_3388del (COL18A1)	ENSP00000347665.5:p.Pro1124_Pro1129del
ENST00000651438.1:c.2831_2848del (COL18A1) MANE Select	ENSP00000498485.1:p.Pro944_Pro949del
ENST00000342220.9:c.872_889del (COL18A1)	ENSP00000339118.5:p.Pro291_Pro296del
ENST00000355480.9:c.3371_3388del (COL18A1)	ENSP00000347665.5:p.Pro1124_Pro1129del
ENST00000359759.8:c.4076_4093del (COL18A1)	ENSP00000352798.4:p.Pro1359_Pro1364del
ENST00000400337.6:c.2831_2848del (COL18A1)	ENSP00000383191.2:p.Pro944_Pro949del
ENST00000417954.5:c.498-5923_498-5906del (SLC19A1)
ENST00000567670.5:c.1294-5923_1294-5906del (SLC19A1)	ENSP00000457278.1:n.1294-5923_1294-5906del
XM_011529707.1:c.1585-1566_1585-1549del (SLC19A1)	XP_011528009.1:n.1585-1566_1585-1549del
XM_017028445.2:c.1585-1566_1585-1549del (SLC19A1)	XP_016883934.1:n.1585-1566_1585-1549del
NM_001379500.1:c.2831_2848del (COL18A1) MANE Select	NP_001366429.1:p.Pro944_Pro949del