Canonical Allele Identifier: CA932070030
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2086316871
gnomAD v3: 10-104037883-GCC-G
gnomAD v4: 10-104037883-GCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037885_104037886del , CM000672.2:g.104037885_104037886del GRCh38
NC_000010.10:g.105797643_105797644del , CM000672.1:g.105797643_105797644del GRCh37
NC_000010.9:g.105787633_105787634del NCBI36
NG_007069.1:g.52996_52997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2936-112_2936-111del ENSP00000358748.3:n.2936-112_2936-111del
ENST00000648076.2:c.3071-112_3071-111del MANE Select ENSP00000497653.1:n.3071-112_3071-111del
ENST00000353479.9:c.3071-112_3071-111del ENSP00000340937.5:n.3071-112_3071-111del
ENST00000369733.7:c.2936-112_2936-111del ENSP00000358748.3:n.2936-112_2936-111del
NM_000494.3:c.3071-112_3071-111del NP_000485.3:n.3071-112_3071-111del
NM_000494.4:c.3071-112_3071-111del MANE Select NP_000485.3:n.3071-112_3071-111del
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