Canonical Allele Identifier: CA2610800485
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104037709-T-TCCTGGGGGACCAGGTGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037721_104037738dup , CM000672.2:g.104037721_104037738dup GRCh38
NC_000010.10:g.105797479_105797496dup , CM000672.1:g.105797479_105797496dup GRCh37
NC_000010.9:g.105787469_105787486dup NCBI36
NG_007069.1:g.53154_53171dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2982_2999dup ENSP00000358748.3:p.Gly1000_Pro1001insProProGlyProProGly
ENST00000648076.2:c.3117_3134dup MANE Select ENSP00000497653.1:p.Gly1045_Pro1046insProProGlyProProGly
ENST00000353479.9:c.3117_3134dup ENSP00000340937.5:p.Gly1045_Pro1046insProProGlyProProGly
ENST00000369733.7:c.2982_2999dup ENSP00000358748.3:p.Gly1000_Pro1001insProProGlyProProGly
NM_000494.3:c.3117_3134dup NP_000485.3:p.Gly1045_Pro1046insProProGlyProProGly
NM_000494.4:c.3117_3134dup MANE Select NP_000485.3:p.Gly1045_Pro1046insProProGlyProProGly
Search 100 bp 5'
Search 100 bp 3'